Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome		86
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis		19
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia		104
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2		11
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S		5769
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease		56
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3		29
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia		247
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CCND1 CL E G H	595	1582	OMIM:254500	Multiple myeloma		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease		11
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2		102
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3		216
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5		141
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive		143
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6		143
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8		111
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant		111
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type		111
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease		373
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa		263
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome		12
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome		10
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CTNS CL E G H	1497	2518	OMIM:219750	Cystinosis, adult nonnephropathic		178
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type		178
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CTNS CL E G H	1497	2518	ORPHA:411641	Ocular cystinosis		178
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E		30
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency		82
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome		41
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant		155
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect		94
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		145
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12		80
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome		40
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B		54
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F		158
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G		83
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ERCC6 CL E G H	2074	3438	OMIM:600630	Uv-Sensitive syndrome 1		199
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ERCC8 CL E G H	1161	3439	OMIM:614621	UV-sensitive syndrome 2		55
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FLNA CL E G H	2316	3754	ORPHA:99811	Neuronal intestinal pseudoobstruction		493
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome		30
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency		61
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19		61
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease		105
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay		14
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome		68
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia		17
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta		240
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23		30
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency		41
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency		99
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4		6
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency		32
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type		19
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease		19
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3		16
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IGKC CL E G H	3514	5716	OMIM:614102	Immunoglobulin kappa light chain deficiency		5
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15		4
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IL4R CL E G H	3566	6015	OMIM:147050	Ige responsiveness, atopic		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions		106
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent	1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	KRT1 CL E G H	3848	6412	OMIM:144200	Palmoplantar keratoderma, epidermolytic		100
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	KRT9 CL E G H	3857	6447	OMIM:144200	Palmoplantar keratoderma, epidermolytic		66
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome		88
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LIG4 CL E G H	3981	6601	OMIM:254500	Multiple myeloma		88
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation		645
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type		191
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV		78
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV		78
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MCPH1 CL E G H	79648	6954	OMIM:251200	Microcephaly, primary autosomal recessive, 1		155
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome		950
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect		17
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome		11
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG		37
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1		532
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MS4A2 CL E G H	2206	7316	OMIM:147050	Ige responsiveness, atopic		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever		150
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy		1269
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency		14
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D		82
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency		7
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency		32
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14		32
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26		27
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency		40
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency		26
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency		31
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency		50
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency		34
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency		16
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24		16
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency		81
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency		65
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy		65
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency		22
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency		27
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency		21
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency		38
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency		42
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency		74
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency		27
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis	HP:0040282 - Frequent	5
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome		90
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency		89
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PANX1 CL E G H	24145	8599	ORPHA:488191	Female infertility due to oocyte meiotic arrest		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PANX1 CL E G H	24145	8599	OMIM:618550	OOCYTE MATURATION DEFECT 7; OOMD7		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6		26
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PATL2 CL E G H	197135	33630	ORPHA:488191	Female infertility due to oocyte meiotic arrest
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency		37
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency		98
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency		98
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PLA2G7 CL E G H	7941	9040	OMIM:147050	Ige responsiveness, atopic		5
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy		65
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)		464
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		464
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)		45
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9		23
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome		7
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome		96
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome		948
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD		789
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		127
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		50
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome		150
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis		13
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome		7
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		125
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5		77
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia		1200
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome		4
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy		304
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency		304
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy		110
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome		35
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY		35
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG		11
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome		55
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency		49
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7		171
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome		100
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SPPL2A CL E G H	84888	30227	OMIM:619549	IMMUNODEFICIENCY 86; IMD86
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease		62
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2		12
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy		73
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy		23
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease		65
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease		20
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome		60
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3		103
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency		4
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TMEM185A CL E G H	84548	17125	ORPHA:100974	FRAXF syndrome		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TNFRSF13B CL E G H	23495	18153	OMIM:609529	Immunoglobulin A deficiency 2		32
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A		180
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5		911
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2		203
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3		43
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TUBB8 CL E G H	347688	20773	ORPHA:488191	Female infertility due to oocyte meiotic arrest		10
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TYK2 CL E G H	7297	12440	OMIM:611521	Immunodeficiency 35		77
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		138
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria		135
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria		135
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	UVSSA CL E G H	57654	29304	OMIM:614640	Uv-Sensitive syndrome 3		3
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease		63
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	WEE2 CL E G H	494551	19684	ORPHA:488191	Female infertility due to oocyte meiotic arrest
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3		40
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A		34
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C		86
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2		9
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ZCCHC8 CL E G H	55596	25265	OMIM:618674	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5		1
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0025354	HP:0025354	Abnormal cellular phenotype	0	ZP2 CL E G H	7783	13188	OMIM:618353	OOCYTE MATURATION DEFECT 6; OOMD6
HP:0025354	HP:0011017	Abnormal cellular physiology	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0025354	HP:0025461	Abnormal cell morphology	1	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0025354	HP:0025461	Abnormal cell morphology	1	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome		86
HP:0025354	HP:0011017	Abnormal cellular physiology	1	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0025354	HP:0011017	Abnormal cellular physiology	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0025354	HP:0011017	Abnormal cellular physiology	1	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0025354	HP:0011017	Abnormal cellular physiology	1	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis		19
HP:0025354	HP:0011017	Abnormal cellular physiology	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia		104
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0025354	HP:0025461	Abnormal cell morphology	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0025354	HP:0011017	Abnormal cellular physiology	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0025354	HP:0025461	Abnormal cell morphology	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent	11
HP:0025354	HP:0011017	Abnormal cellular physiology	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S		5769
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0025354	HP:0011017	Abnormal cellular physiology	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0025354	HP:0011017	Abnormal cellular physiology	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease		56
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3		29
HP:0025354	HP:0025461	Abnormal cell morphology	1	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia		247
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CCND1 CL E G H	595	1582	OMIM:254500	Multiple myeloma		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease		11
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2		102
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3		216
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5		141
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive		143
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6		143
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8		111
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant		111
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type		111
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0025354	HP:0025461	Abnormal cell morphology	1	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease		373
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa		263
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0025354	HP:0011017	Abnormal cellular physiology	1	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome		12
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome		10
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CTNS CL E G H	1497	2518	OMIM:219750	Cystinosis, adult nonnephropathic		178
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type		178
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CTNS CL E G H	1497	2518	ORPHA:411641	Ocular cystinosis		178
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0025354	HP:0011017	Abnormal cellular physiology	1	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E		30
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency		82
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome		41
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant		155
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect		94
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		145
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0025354	HP:0011017	Abnormal cellular physiology	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0025354	HP:0025461	Abnormal cell morphology	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0025354	HP:0025461	Abnormal cell morphology	1	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0025354	HP:0011017	Abnormal cellular physiology	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12		80
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0025354	HP:0011017	Abnormal cellular physiology	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0025354	HP:0011017	Abnormal cellular physiology	1	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome		40
HP:0025354	HP:0011017	Abnormal cellular physiology	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B		54
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F		158
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G		83
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ERCC6 CL E G H	2074	3438	OMIM:600630	Uv-Sensitive syndrome 1		199
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ERCC8 CL E G H	1161	3439	OMIM:614621	UV-sensitive syndrome 2		55
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0025354	HP:0011017	Abnormal cellular physiology	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FLNA CL E G H	2316	3754	ORPHA:99811	Neuronal intestinal pseudoobstruction		493
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome		30
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency		61
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19		61
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease		105
HP:0025354	HP:0011017	Abnormal cellular physiology	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay		14
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome		68
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia		17
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta		240
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23		30
HP:0025354	HP:0025461	Abnormal cell morphology	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0025354	HP:0011017	Abnormal cellular physiology	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0025354	HP:0025461	Abnormal cell morphology	1	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0025354	HP:0011017	Abnormal cellular physiology	1	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency		41
HP:0025354	HP:0011017	Abnormal cellular physiology	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0025354	HP:0011017	Abnormal cellular physiology	1	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency		99
HP:0025354	HP:0011017	Abnormal cellular physiology	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0025354	HP:0011017	Abnormal cellular physiology	1	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4		6
HP:0025354	HP:0011017	Abnormal cellular physiology	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0025354	HP:0011017	Abnormal cellular physiology	1	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency		32
HP:0025354	HP:0011017	Abnormal cellular physiology	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0025354	HP:0011017	Abnormal cellular physiology	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type		19
HP:0025354	HP:0011017	Abnormal cellular physiology	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease		19
HP:0025354	HP:0011017	Abnormal cellular physiology	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3		16
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IGKC CL E G H	3514	5716	OMIM:614102	Immunoglobulin kappa light chain deficiency		5
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15		4
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IL4R CL E G H	3566	6015	OMIM:147050	Ige responsiveness, atopic		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0025354	HP:0011017	Abnormal cellular physiology	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025354	HP:0011017	Abnormal cellular physiology	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0025354	HP:0011017	Abnormal cellular physiology	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0025354	HP:0011017	Abnormal cellular physiology	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0025354	HP:0011017	Abnormal cellular physiology	1	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions		106
HP:0025354	HP:0011017	Abnormal cellular physiology	1	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0025354	HP:0011017	Abnormal cellular physiology	1	KRT1 CL E G H	3848	6412	OMIM:144200	Palmoplantar keratoderma, epidermolytic		100
HP:0025354	HP:0011017	Abnormal cellular physiology	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0025354	HP:0011017	Abnormal cellular physiology	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0025354	HP:0011017	Abnormal cellular physiology	1	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0025354	HP:0011017	Abnormal cellular physiology	1	KRT9 CL E G H	3857	6447	OMIM:144200	Palmoplantar keratoderma, epidermolytic		66
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0025461	Abnormal cell morphology	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional	1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome		88
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LIG4 CL E G H	3981	6601	OMIM:254500	Multiple myeloma		88
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation		645
HP:0025354	HP:0025461	Abnormal cell morphology	1	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type		191
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0025354	HP:0011017	Abnormal cellular physiology	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV		78
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV		78
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MCPH1 CL E G H	79648	6954	OMIM:251200	Microcephaly, primary autosomal recessive, 1		155
HP:0025354	HP:0025461	Abnormal cell morphology	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome		950
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect		17
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome		11
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG		37
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1		532
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MS4A2 CL E G H	2206	7316	OMIM:147050	Ige responsiveness, atopic		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever		150
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy		1269
HP:0025354	HP:0011017	Abnormal cellular physiology	1	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency		14
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D		82
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency		7
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency		32
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14		32
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26		27
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency		40
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency		26
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency		31
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency		50
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency		34
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency		16
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24		16
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency		81
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency		65
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy		65
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency		22
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency		27
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency		21
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency		38
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency		42
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency		74
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency		27
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome		90
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency		89
HP:0025354	HP:0011017	Abnormal cellular physiology	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0025354	HP:0011017	Abnormal cellular physiology	1	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0025354	HP:0011017	Abnormal cellular physiology	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0025354	HP:0025461	Abnormal cell morphology	1	PANX1 CL E G H	24145	8599	ORPHA:488191	Female infertility due to oocyte meiotic arrest		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PANX1 CL E G H	24145	8599	OMIM:618550	OOCYTE MATURATION DEFECT 7; OOMD7		1
HP:0025354	HP:0025461	Abnormal cell morphology	1	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6		26
HP:0025354	HP:0025461	Abnormal cell morphology	1	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0025354	HP:0025461	Abnormal cell morphology	1	PATL2 CL E G H	197135	33630	ORPHA:488191	Female infertility due to oocyte meiotic arrest
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency		37
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency		98
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency		98
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0025354	HP:0031550	Abnormal flow cytometry test result	1	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0025354	HP:0031550	Abnormal flow cytometry test result	1	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PLA2G7 CL E G H	7941	9040	OMIM:147050	Ige responsiveness, atopic		5
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0025354	HP:0025461	Abnormal cell morphology	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy		65
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0025354	HP:0011017	Abnormal cellular physiology	1	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0025354	HP:0011017	Abnormal cellular physiology	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0025354	HP:0011017	Abnormal cellular physiology	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)		464
HP:0025354	HP:0011017	Abnormal cellular physiology	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0025354	HP:0025461	Abnormal cell morphology	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional	464
HP:0025354	HP:0011017	Abnormal cellular physiology	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		464
HP:0025354	HP:0011017	Abnormal cellular physiology	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0025354	HP:0011017	Abnormal cellular physiology	1	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)		45
HP:0025354	HP:0011017	Abnormal cellular physiology	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0025354	HP:0025461	Abnormal cell morphology	1	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9		23
HP:0025354	HP:0011017	Abnormal cellular physiology	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome		7
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome		96
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome		948
HP:0025354	HP:0011017	Abnormal cellular physiology	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0025354	HP:0011017	Abnormal cellular physiology	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD		789
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		127
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		50
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome		150
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0025354	HP:0011017	Abnormal cellular physiology	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0025354	HP:0025461	Abnormal cell morphology	1	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma	HP:0040282 - Frequent	1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis		13
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome		7
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0025354	HP:0025461	Abnormal cell morphology	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0025354	HP:0025461	Abnormal cell morphology	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0025354	HP:0025461	Abnormal cell morphology	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional	125
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		125
HP:0025354	HP:0011017	Abnormal cellular physiology	1	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5		77
HP:0025354	HP:0025461	Abnormal cell morphology	1	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0025354	HP:0025461	Abnormal cell morphology	1	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia		1200
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome		4
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy		304
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency		304
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy		110
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome		35
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY		35
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG		11
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome		55
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency		49
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7		171
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome		100
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SPPL2A CL E G H	84888	30227	OMIM:619549	IMMUNODEFICIENCY 86; IMD86
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease		62
HP:0025354	HP:0011017	Abnormal cellular physiology	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0025354	HP:0011017	Abnormal cellular physiology	1	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0025354	HP:0011017	Abnormal cellular physiology	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0025354	HP:0011017	Abnormal cellular physiology	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0025354	HP:0011017	Abnormal cellular physiology	1	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2		12
HP:0025354	HP:0011017	Abnormal cellular physiology	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0025354	HP:0011017	Abnormal cellular physiology	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0025354	HP:0011017	Abnormal cellular physiology	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0025354	HP:0011017	Abnormal cellular physiology	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy		73
HP:0025354	HP:0011017	Abnormal cellular physiology	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy		23
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease		65
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease		20
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0025354	HP:0025461	Abnormal cell morphology	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0025354	HP:0025461	Abnormal cell morphology	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0025354	HP:0025461	Abnormal cell morphology	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome		60
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome		60
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3		103
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency		4
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TMEM185A CL E G H	84548	17125	ORPHA:100974	FRAXF syndrome		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TNFRSF13B CL E G H	23495	18153	OMIM:609529	Immunoglobulin A deficiency 2		32
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0025461	Abnormal cell morphology	1	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A		180
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5		911
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2		203
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3		43
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0025354	HP:0025461	Abnormal cell morphology	1	TUBB8 CL E G H	347688	20773	ORPHA:488191	Female infertility due to oocyte meiotic arrest		10
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TYK2 CL E G H	7297	12440	OMIM:611521	Immunodeficiency 35		77
HP:0025354	HP:0025461	Abnormal cell morphology	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional	138
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		138
HP:0025354	HP:0025461	Abnormal cell morphology	1	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0025354	HP:0011017	Abnormal cellular physiology	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0025354	HP:0011017	Abnormal cellular physiology	1	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria		135
HP:0025354	HP:0011017	Abnormal cellular physiology	1	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria		135
HP:0025354	HP:0011017	Abnormal cellular physiology	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0025354	HP:0011017	Abnormal cellular physiology	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0025354	HP:0011017	Abnormal cellular physiology	1	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0025354	HP:0011017	Abnormal cellular physiology	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0025354	HP:0011017	Abnormal cellular physiology	1	UVSSA CL E G H	57654	29304	OMIM:614640	Uv-Sensitive syndrome 3		3
HP:0025354	HP:0011017	Abnormal cellular physiology	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0025354	HP:0025461	Abnormal cell morphology	1	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0025354	HP:0011017	Abnormal cellular physiology	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease		63
HP:0025354	HP:0011017	Abnormal cellular physiology	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0025354	HP:0011017	Abnormal cellular physiology	1	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0025354	HP:0011017	Abnormal cellular physiology	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0025354	HP:0025461	Abnormal cell morphology	1	WEE2 CL E G H	494551	19684	ORPHA:488191	Female infertility due to oocyte meiotic arrest
HP:0025354	HP:0011017	Abnormal cellular physiology	1	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0025354	HP:0025461	Abnormal cell morphology	1	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3		40
HP:0025354	HP:0011017	Abnormal cellular physiology	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0025354	HP:0011017	Abnormal cellular physiology	1	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0025354	HP:0011017	Abnormal cellular physiology	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A		34
HP:0025354	HP:0011017	Abnormal cellular physiology	1	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C		86
HP:0025354	HP:0011017	Abnormal cellular physiology	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0025354	HP:0011017	Abnormal cellular physiology	1	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0025354	HP:0011017	Abnormal cellular physiology	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2		9
HP:0025354	HP:0025461	Abnormal cell morphology	1	ZCCHC8 CL E G H	55596	25265	OMIM:618674	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5		1
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0025354	HP:0011017	Abnormal cellular physiology	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0025354	HP:0025461	Abnormal cell morphology	1	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma	HP:0040282 - Frequent
HP:0025354	HP:0025461	Abnormal cell morphology	1	ZP2 CL E G H	7783	13188	OMIM:618353	OOCYTE MATURATION DEFECT 6; OOMD6
HP:0025354	HP:0031340	Abnormal lysosomal morphology	2	CL E G H
HP:0025354	HP:0031476	Abnormal buccal mucosa cell morphology	2	CL E G H
HP:0025354	HP:0031871	Abnormal Langerhans cell morphology	2	CL E G H
HP:0025354	HP:0031925	Rosette	2	CL E G H
HP:0025354	HP:0032576	Intracellular accumulation of Dol-PP-GlcNAc2Man5	2	CL E G H
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0025354	HP:0031331	Abnormal cardiomyocyte morphology	2	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0025354	HP:0031331	Abnormal cardiomyocyte morphology	2	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome		86
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis		19
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis		19
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0025354	HP:0011133	Increased sensitivity to ionizing radiation	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	54
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia		104
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0025354	HP:0031331	Abnormal cardiomyocyte morphology	2	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0025354	HP:0004356	Abnormality of lysosomal metabolism	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0025354	HP:0011133	Increased sensitivity to ionizing radiation	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	184
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	5769
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S		5769
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	7642
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1086
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0025354	HP:0002916	Abnormality of chromosome segregation	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease		56
HP:0025354	HP:0004356	Abnormality of lysosomal metabolism	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0025354	HP:0004356	Abnormality of lysosomal metabolism	2	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3		29
HP:0025354	HP:0031331	Abnormal cardiomyocyte morphology	2	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia		247
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0025354	HP:0031377	Abnormal cell proliferation	2	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0025354	HP:0003254	Abnormality of DNA repair	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CCND1 CL E G H	595	1582	OMIM:254500	Multiple myeloma		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0031377	Abnormal cell proliferation	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0025354	HP:0031377	Abnormal cell proliferation	2	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0025354	HP:0031377	Abnormal cell proliferation	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0025354	HP:0031377	Abnormal cell proliferation	2	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0025354	HP:0031377	Abnormal cell proliferation	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0025354	HP:0002916	Abnormality of chromosome segregation	2	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent	4
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease		11
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0025354	HP:0031377	Abnormal cell proliferation	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0025354	HP:0004356	Abnormality of lysosomal metabolism	2	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2		102
HP:0025354	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	2	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3		216
HP:0025354	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	2	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5		141
HP:0025354	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	2	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive		143
HP:0025354	HP:0004356	Abnormality of lysosomal metabolism	2	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive		143
HP:0025354	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	2	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6		143
HP:0025354	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	2	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8		111
HP:0025354	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	2	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant		111
HP:0025354	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	2	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040281 - Very frequent	111
HP:0025354	HP:0004356	Abnormality of lysosomal metabolism	2	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type		111
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0025354	HP:0031331	Abnormal cardiomyocyte morphology	2	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease		373
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa		263
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome		12
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome		10
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0025354	HP:0003358	Elevated intracellular cystine	2	CTNS CL E G H	1497	2518	OMIM:219750	Cystinosis, adult nonnephropathic		178
HP:0025354	HP:0003358	Elevated intracellular cystine	2	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type	.	178
HP:0025354	HP:0003358	Elevated intracellular cystine	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0025354	HP:0003358	Elevated intracellular cystine	2	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0025354	HP:0003358	Elevated intracellular cystine	2	CTNS CL E G H	1497	2518	ORPHA:411641	Ocular cystinosis		178
HP:0025354	HP:0031377	Abnormal cell proliferation	2	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0004356	Abnormality of lysosomal metabolism	2	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0025354	HP:0003254	Abnormality of DNA repair	2	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E		30
HP:0025354	HP:0031377	Abnormal cell proliferation	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency		82
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome		41
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	2	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant		155
HP:0025354	HP:0004356	Abnormality of lysosomal metabolism	2	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant		155
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040281 - Very frequent	94
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		145
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent	79
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0025354	HP:0031377	Abnormal cell proliferation	2	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0025354	HP:0031331	Abnormal cardiomyocyte morphology	2	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0025354	HP:0031331	Abnormal cardiomyocyte morphology	2	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12		80
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome		40
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0025354	HP:0003254	Abnormality of DNA repair	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0025354	HP:0003254	Abnormality of DNA repair	2	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0025354	HP:0003254	Abnormality of DNA repair	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0025354	HP:0003224	Increased cellular sensitivity to UV light	2	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.	54
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	158
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0025354	HP:0003254	Abnormality of DNA repair	2	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F		158
HP:0025354	HP:0003254	Abnormality of DNA repair	2	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0025354	HP:0003254	Abnormality of DNA repair	2	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G		83
HP:0025354	HP:0003224	Increased cellular sensitivity to UV light	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0025354	HP:0003254	Abnormality of DNA repair	2	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0025354	HP:0003224	Increased cellular sensitivity to UV light	2	ERCC6 CL E G H	2074	3438	OMIM:600630	Uv-Sensitive syndrome 1	.	199
HP:0025354	HP:0003224	Increased cellular sensitivity to UV light	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0025354	HP:0003224	Increased cellular sensitivity to UV light	2	ERCC8 CL E G H	1161	3439	OMIM:614621	UV-sensitive syndrome 2	.	55
HP:0025354	HP:0002916	Abnormality of chromosome segregation	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0025354	HP:0031377	Abnormal cell proliferation	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	340
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0025354	HP:0003254	Abnormality of DNA repair	2	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0025354	HP:0011018	Abnormality of the cell cycle	2	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	58
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	410
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0025354	HP:0003254	Abnormality of DNA repair	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0025354	HP:0011018	Abnormality of the cell cycle	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	147
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0025354	HP:0003254	Abnormality of DNA repair	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0025354	HP:0011018	Abnormality of the cell cycle	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	73
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0025354	HP:0003254	Abnormality of DNA repair	2	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0025354	HP:0011018	Abnormality of the cell cycle	2	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	87
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	73
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	157
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	53
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	.	53
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	107
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	FLNA CL E G H	2316	3754	ORPHA:99811	Neuronal intestinal pseudoobstruction		493
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome		30
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency		61
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19		61
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease		105
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay		14
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0025354	HP:0002916	Abnormality of chromosome segregation	2	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	68
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia		17
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0025354	HP:0004356	Abnormality of lysosomal metabolism	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0025354	HP:0004356	Abnormality of lysosomal metabolism	2	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta		240
HP:0025354	HP:0004371	Abnormality of glycosaminoglycan metabolism	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0025354	HP:0003254	Abnormality of DNA repair	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0025354	HP:0003254	Abnormality of DNA repair	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23		30
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0025354	HP:0031331	Abnormal cardiomyocyte morphology	2	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0025354	HP:0031331	Abnormal cardiomyocyte morphology	2	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency		41
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency		99
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent	6
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4		6
HP:0025354	HP:0004371	Abnormality of glycosaminoglycan metabolism	2	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency		32
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type		19
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease		19
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3		16
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IGKC CL E G H	3514	5716	OMIM:614102	Immunoglobulin kappa light chain deficiency		5
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15		4
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0025354	HP:0031377	Abnormal cell proliferation	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0025354	HP:0031377	Abnormal cell proliferation	2	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IL4R CL E G H	3566	6015	OMIM:147050	Ige responsiveness, atopic		3
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0025354	HP:0031377	Abnormal cell proliferation	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025354	HP:0031377	Abnormal cell proliferation	2	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0025354	HP:0031377	Abnormal cell proliferation	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0025354	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	2	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions		106
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin		1
HP:0025354	HP:0031377	Abnormal cell proliferation	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	KRT1 CL E G H	3848	6412	OMIM:144200	Palmoplantar keratoderma, epidermolytic		100
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	KRT9 CL E G H	3857	6447	OMIM:144200	Palmoplantar keratoderma, epidermolytic		66
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0025354	HP:0002916	Abnormality of chromosome segregation	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0025354	HP:0025463	Abnormality of redox activity	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0025354	HP:0031377	Abnormal cell proliferation	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0025354	HP:0031377	Abnormal cell proliferation	2	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	1
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040281 - Very frequent	88
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	LIG4 CL E G H	3981	6601	OMIM:254500	Multiple myeloma		88
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	HP:0040283 - Occasional	645
HP:0025354	HP:0031331	Abnormal cardiomyocyte morphology	2	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type		191
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant		3
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0025354	HP:0004371	Abnormality of glycosaminoglycan metabolism	2	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV		78
HP:0025354	HP:0004371	Abnormality of glycosaminoglycan metabolism	2	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV		78
HP:0025354	HP:0011019	Abnormality of chromosome condensation	2	MCPH1 CL E G H	79648	6954	OMIM:251200	Microcephaly, primary autosomal recessive, 1		155
HP:0025354	HP:0031411	Abnormal chromosome morphology	2	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0025354	HP:0002916	Abnormality of chromosome segregation	2	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040281 - Very frequent	950
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect		17
HP:0025354	HP:0031377	Abnormal cell proliferation	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome		11
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG		37
HP:0025354	HP:0003254	Abnormality of DNA repair	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0025354	HP:0011133	Increased sensitivity to ionizing radiation	2	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.	532
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0025354	HP:0031377	Abnormal cell proliferation	2	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MS4A2 CL E G H	2206	7316	OMIM:147050	Ige responsiveness, atopic		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever		150
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic		9
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy		1269
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency		14
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0025354	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	2	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D		82
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency		7
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency		32
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14		32
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency		1
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26		27
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency		40
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency		26
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency		31
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency		50
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency		34
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency		3
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency		9
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency		16
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24		16
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency		81
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency		65
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy		65
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency		22
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency		27
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency		21
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency		38
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency		42
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency		74
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency		27
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0025354	HP:0011133	Increased sensitivity to ionizing radiation	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	220
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0025354	HP:0002916	Abnormality of chromosome segregation	2	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	90
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0025354	HP:0004356	Abnormality of lysosomal metabolism	2	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0025354	HP:0011133	Increased sensitivity to ionizing radiation	2	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0031377	Abnormal cell proliferation	2	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency		89
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0025354	HP:0004356	Abnormality of lysosomal metabolism	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1349
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0025354	HP:0020155	Abnormal oocyte morphology	2	PANX1 CL E G H	24145	8599	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040283 - Occasional	1
HP:0025354	HP:0032571	Increased oocyte death	2	PANX1 CL E G H	24145	8599	OMIM:618550	OOCYTE MATURATION DEFECT 7; OOMD7		1
HP:0025354	HP:0031411	Abnormal chromosome morphology	2	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6		26
HP:0025354	HP:0031411	Abnormal chromosome morphology	2	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0025354	HP:0020155	Abnormal oocyte morphology	2	PATL2 CL E G H	197135	33630	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040283 - Occasional
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0025354	HP:0011133	Increased sensitivity to ionizing radiation	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	9
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency		37
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency		98
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency		98
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0025354	HP:0031377	Abnormal cell proliferation	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0025354	HP:0031551	Reduced cell surface marker level	2	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0025354	HP:0031551	Reduced cell surface marker level	2	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0025354	HP:0004371	Abnormality of glycosaminoglycan metabolism	2	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0025354	HP:0011133	Increased sensitivity to ionizing radiation	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	162
HP:0025354	HP:0031377	Abnormal cell proliferation	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PLA2G7 CL E G H	7941	9040	OMIM:147050	Ige responsiveness, atopic		5
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0025354	HP:0031377	Abnormal cell proliferation	2	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0025354	HP:0031331	Abnormal cardiomyocyte morphology	2	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040281 - Very frequent	65
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)		464
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	464
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)		45
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0025354	HP:0031411	Abnormal chromosome morphology	2	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9		23
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome		7
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0025354	HP:0004356	Abnormality of lysosomal metabolism	2	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome		96
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome		948
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0025354	HP:0031377	Abnormal cell proliferation	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD		789
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	9
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	391
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0025354	HP:0031377	Abnormal cell proliferation	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		127
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0025354	HP:0031377	Abnormal cell proliferation	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		50
HP:0025354	HP:0002916	Abnormality of chromosome segregation	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040281 - Very frequent	150
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0025354	HP:0031377	Abnormal cell proliferation	2	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0025354	HP:0031377	Abnormal cell proliferation	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0025354	HP:0031377	Abnormal cell proliferation	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0025354	HP:0031377	Abnormal cell proliferation	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0025354	HP:0031377	Abnormal cell proliferation	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0025354	HP:0003575	Increased intracellular sodium	2	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis	.	13
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0025354	HP:0003254	Abnormality of DNA repair	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0025354	HP:0011133	Increased sensitivity to ionizing radiation	2	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome		7
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome		7
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0025354	HP:0031411	Abnormal chromosome morphology	2	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0025354	HP:0031331	Abnormal cardiomyocyte morphology	2	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	125
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5		77
HP:0025354	HP:0031411	Abnormal chromosome morphology	2	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0025354	HP:0031331	Abnormal cardiomyocyte morphology	2	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia		1200
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome		4
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy		304
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency		304
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0025354	HP:0002916	Abnormality of chromosome segregation	2	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61		2
HP:0025354	HP:0002916	Abnormality of chromosome segregation	2	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy		110
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome	HP:0040281 - Very frequent	35
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY		35
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0025354	HP:0003575	Increased intracellular sodium	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040282 - Frequent	255
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG		11
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome		55
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	274
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040281 - Very frequent	74
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0025354	HP:0011133	Increased sensitivity to ionizing radiation	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	87
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0025354	HP:0011133	Increased sensitivity to ionizing radiation	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	47
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0025354	HP:0011133	Increased sensitivity to ionizing radiation	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	22
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency		49
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7		171
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome		100
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SPPL2A CL E G H	84888	30227	OMIM:619549	IMMUNODEFICIENCY 86; IMD86
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease		62
HP:0025354	HP:0031377	Abnormal cell proliferation	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2		12
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0025354	HP:0011133	Increased sensitivity to ionizing radiation	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	124
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy		73
HP:0025354	HP:0031377	Abnormal cell proliferation	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy		23
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease		65
HP:0025354	HP:0003254	Abnormality of DNA repair	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease		20
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040281 - Very frequent	57
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0025354	HP:0011133	Increased sensitivity to ionizing radiation	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	238
HP:0025354	HP:0031411	Abnormal chromosome morphology	2	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0025354	HP:4000056	Abnormal apoptosis	2	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0025354	HP:0031377	Abnormal cell proliferation	2	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency		1
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0025354	HP:0031411	Abnormal chromosome morphology	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome		60
HP:0025354	HP:0031411	Abnormal chromosome morphology	2	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome		60
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3		103
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency		4
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	TMEM185A CL E G H	84548	17125	ORPHA:100974	FRAXF syndrome		3
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0025354	HP:0004356	Abnormality of lysosomal metabolism	2	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TNFRSF13B CL E G H	23495	18153	OMIM:609529	Immunoglobulin A deficiency 2		32
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0031331	Abnormal cardiomyocyte morphology	2	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A		180
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5		911
HP:0025354	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	2	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2		203
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0025354	HP:0011133	Increased sensitivity to ionizing radiation	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040281 - Very frequent
HP:0025354	HP:0002916	Abnormality of chromosome segregation	2	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0025354	HP:0002916	Abnormality of chromosome segregation	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3		43
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0025354	HP:0020155	Abnormal oocyte morphology	2	TUBB8 CL E G H	347688	20773	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040283 - Occasional	10
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29		1
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TYK2 CL E G H	7297	12440	OMIM:611521	Immunodeficiency 35		77
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	138
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0025354	HP:0031411	Abnormal chromosome morphology	2	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	2
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria		135
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria		135
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0025354	HP:0003224	Increased cellular sensitivity to UV light	2	UVSSA CL E G H	57654	29304	OMIM:614640	Uv-Sensitive syndrome 3	.	3
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0025354	HP:0031331	Abnormal cardiomyocyte morphology	2	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0025354	HP:0012103	Abnormality of the mitochondrion	2	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease		63
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0025354	HP:0020155	Abnormal oocyte morphology	2	WEE2 CL E G H	494551	19684	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040283 - Occasional
HP:0025354	HP:0031377	Abnormal cell proliferation	2	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0025354	HP:0031411	Abnormal chromosome morphology	2	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3		40
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0025354	HP:0003254	Abnormality of DNA repair	2	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A		34
HP:0025354	HP:0003254	Abnormality of DNA repair	2	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C		86
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	125
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040281 - Very frequent	9
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0025354	HP:0031377	Abnormal cell proliferation	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0025354	HP:0003220	Abnormality of chromosome stability	2	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent	9
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2		9
HP:0025354	HP:0031411	Abnormal chromosome morphology	2	ZCCHC8 CL E G H	55596	25265	OMIM:618674	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5		1
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0025354	HP:0031409	Abnormal lymphocyte physiology	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0025354	HP:0020155	Abnormal oocyte morphology	2	ZP2 CL E G H	7783	13188	OMIM:618353	OOCYTE MATURATION DEFECT 6; OOMD6
HP:0025354	HP:0025464	Increased reactive oxygen species production	3	CL E G H
HP:0025354	HP:0031332	Cardiomyocyte degeneration	3	CL E G H
HP:0025354	HP:0031334	Cardiomyocyte inclusion bodies	3	CL E G H
HP:0025354	HP:0031335	Abnormal cardiomyocyte mitochondrial morphology	3	CL E G H
HP:0025354	HP:0031337	Abnormal cardiomyocyte connexin43 staining	3	CL E G H
HP:0025354	HP:0031338	Abnormal cardiomyocyte plakoglobin staining	3	CL E G H
HP:0025354	HP:0031339	Abnormal cadiomyocyte dystrophin staining	3	CL E G H
HP:0025354	HP:0031361	Zebra bodies	3	CL E G H
HP:0025354	HP:0031552	Reduced fibroblast surface marker level	3	CL E G H
HP:0025354	HP:0031872	Absent Birbeck granules in Langerhans cells	3	CL E G H
HP:0025354	HP:0031926	Homer Wright rosette	3	CL E G H
HP:0025354	HP:0031927	Flexner-Wintersteiner rosette	3	CL E G H
HP:0025354	HP:0031928	True ependymal rosette	3	CL E G H
HP:0025354	HP:0031929	Perivascular pseudorosette	3	CL E G H
HP:0025354	HP:0031930	Neurocytic rosette	3	CL E G H
HP:0025354	HP:0032188	Cellular hypersensitivity to mitomycin C	3	CL E G H
HP:0025354	HP:0032189	Cellular hypersensitivity to diepoxybutane	3	CL E G H
HP:0025354	HP:0410023	Abnormal distribution of cell junction proteins in buccal mucosal cells	3	CL E G H
HP:0025354	HP:0410166	Defective interstrand cross-link repair	3	CL E G H
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0025354	HP:0031319	Cardiomyocyte hypertrophy	3	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0025354	HP:0031319	Cardiomyocyte hypertrophy	3	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	.	307
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome		86
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040281 - Very frequent	19
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis		19
HP:0025354	HP:0040012	Chromosome breakage	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia		104
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0025354	HP:0031319	Cardiomyocyte hypertrophy	3	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0025354	HP:0040139	Lipogranulomatosis	3	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.	78
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0025354	HP:0040012	Chromosome breakage	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0025354	HP:0040012	Chromosome breakage	3	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0025354	HP:0040012	Chromosome breakage	3	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0025354	HP:0040012	Chromosome breakage	3	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0025354	HP:0040012	Chromosome breakage	3	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0025354	HP:0200024	Premature chromatid separation	3	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	56
HP:0025354	HP:0003148	Elevated serum acid phosphatase	3	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0025354	HP:0003148	Elevated serum acid phosphatase	3	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.	29
HP:0025354	HP:0031320	Cardiomyocyte mitochondrial proliferation	3	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	247
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0025354	HP:0003079	Defective DNA repair after ultraviolet radiation damage	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0025354	HP:0030886	Abnormal lymphocyte apoptosis	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0030886	Abnormal lymphocyte apoptosis	3	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CCND1 CL E G H	595	1582	OMIM:254500	Multiple myeloma		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0025354	HP:0003352	Endopolyploidy on chromosome studies of bone marrow	3	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.	86
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	11
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0025354	HP:0003148	Elevated serum acid phosphatase	3	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.	102
HP:0025354	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	3	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.	216
HP:0025354	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	3	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.	216
HP:0025354	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	3	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.	141
HP:0025354	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	3	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.	141
HP:0025354	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	3	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.	141
HP:0025354	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	3	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive	.	143
HP:0025354	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	3	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive	.	143
HP:0025354	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	3	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive	.	143
HP:0025354	HP:0003657	Granular osmiophilic deposits (GROD) in cells	3	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive	.	143
HP:0025354	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	3	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6	.	143
HP:0025354	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	3	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6	.	143
HP:0025354	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	3	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8	.	111
HP:0025354	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	3	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	.	111
HP:0025354	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	3	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent	111
HP:0025354	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	3	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent	111
HP:0025354	HP:0003657	Granular osmiophilic deposits (GROD) in cells	3	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040281 - Very frequent	111
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0025354	HP:0031320	Cardiomyocyte mitochondrial proliferation	3	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease		373
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa		263
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0025354	HP:0040012	Chromosome breakage	3	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome		12
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome		10
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0025354	HP:0032639	Elevated leukocyte cystine	3	CTNS CL E G H	1497	2518	OMIM:219750	Cystinosis, adult nonnephropathic		178
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0025354	HP:0032639	Elevated leukocyte cystine	3	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0025354	HP:0032639	Elevated leukocyte cystine	3	CTNS CL E G H	1497	2518	ORPHA:411641	Ocular cystinosis	HP:0040281 - Very frequent	178
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0003657	Granular osmiophilic deposits (GROD) in cells	3	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0025354	HP:0003079	Defective DNA repair after ultraviolet radiation damage	3	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E	.	30
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency		82
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome		41
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	3	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.	155
HP:0025354	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	3	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.	155
HP:0025354	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	3	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.	155
HP:0025354	HP:0003657	Granular osmiophilic deposits (GROD) in cells	3	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.	155
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040282 - Frequent	145
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0025354	HP:0031319	Cardiomyocyte hypertrophy	3	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0025354	HP:0031319	Cardiomyocyte hypertrophy	3	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma	.	747
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12		80
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome		40
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0025354	HP:0003079	Defective DNA repair after ultraviolet radiation damage	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0025354	HP:0003079	Defective DNA repair after ultraviolet radiation damage	3	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.	106
HP:0025354	HP:0003079	Defective DNA repair after ultraviolet radiation damage	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0025354	HP:0040012	Chromosome breakage	3	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q	.	158
HP:0025354	HP:0003079	Defective DNA repair after ultraviolet radiation damage	3	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	.	158
HP:0025354	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	3	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F		158
HP:0025354	HP:0003079	Defective DNA repair after ultraviolet radiation damage	3	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0025354	HP:0003079	Defective DNA repair after ultraviolet radiation damage	3	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G	.	83
HP:0025354	HP:0003079	Defective DNA repair after ultraviolet radiation damage	3	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.	199
HP:0025354	HP:0200024	Premature chromatid separation	3	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0025354	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	3	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0025354	HP:0003214	Prolonged G2 phase of cell cycle	3	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0025354	HP:0040012	Chromosome breakage	3	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0025354	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	3	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0025354	HP:0003214	Prolonged G2 phase of cell cycle	3	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0025354	HP:0040012	Chromosome breakage	3	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0025354	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	3	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.	147
HP:0025354	HP:0003214	Prolonged G2 phase of cell cycle	3	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.	147
HP:0025354	HP:0040012	Chromosome breakage	3	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0025354	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	3	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0025354	HP:0003214	Prolonged G2 phase of cell cycle	3	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0025354	HP:0040012	Chromosome breakage	3	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0025354	HP:0040012	Chromosome breakage	3	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0025354	HP:0040012	Chromosome breakage	3	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0025354	HP:0040012	Chromosome breakage	3	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	.	53
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0030886	Abnormal lymphocyte apoptosis	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0030886	Abnormal lymphocyte apoptosis	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	FLNA CL E G H	2316	3754	ORPHA:99811	Neuronal intestinal pseudoobstruction		493
HP:0025354	HP:0040012	Chromosome breakage	3	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0025354	HP:0040012	Chromosome breakage	3	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome		30
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency		61
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19		61
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	105
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040284 - Very rare	83
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay		14
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia		17
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0025354	HP:0003264	Deficiency of N-acetylglucosamine-1-phosphotransferase	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0025354	HP:0003264	Deficiency of N-acetylglucosamine-1-phosphotransferase	3	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.	240
HP:0025354	HP:0011020	Abnormality of mucopolysaccharide metabolism	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0025354	HP:0003079	Defective DNA repair after ultraviolet radiation damage	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0025354	HP:0003079	Defective DNA repair after ultraviolet radiation damage	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23		30
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0025354	HP:0031319	Cardiomyocyte hypertrophy	3	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent	18
HP:0025354	HP:0031319	Cardiomyocyte hypertrophy	3	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency		41
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency		99
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4		6
HP:0025354	HP:0011020	Abnormality of mucopolysaccharide metabolism	3	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040282 - Frequent	32
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040281 - Very frequent	19
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.	19
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.	16
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IGKC CL E G H	3514	5716	OMIM:614102	Immunoglobulin kappa light chain deficiency		5
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15		4
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IL4R CL E G H	3566	6015	OMIM:147050	Ige responsiveness, atopic		3
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0025354	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	3	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	.	106
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0025354	HP:0030886	Abnormal lymphocyte apoptosis	3	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	KRT1 CL E G H	3848	6412	OMIM:144200	Palmoplantar keratoderma, epidermolytic		100
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	KRT9 CL E G H	3857	6447	OMIM:144200	Palmoplantar keratoderma, epidermolytic		66
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0025354	HP:0025632	Reduced reactive oxygen species production in neutrophils	3	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	LIG4 CL E G H	3981	6601	OMIM:254500	Multiple myeloma		88
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0025354	HP:0031333	Myocardial sarcomeric disarray	3	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type		191
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant		3
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0025354	HP:0040012	Chromosome breakage	3	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0025354	HP:0040012	Chromosome breakage	3	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0025354	HP:0011020	Abnormality of mucopolysaccharide metabolism	3	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.	78
HP:0025354	HP:0011020	Abnormality of mucopolysaccharide metabolism	3	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040281 - Very frequent	78
HP:0025354	HP:0003451	Increased rate of premature chromosome condensation	3	MCPH1 CL E G H	79648	6954	OMIM:251200	Microcephaly, primary autosomal recessive, 1	.	155
HP:0025354	HP:0031412	Abnormal telomere morphology	3	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect		17
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome		11
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG		37
HP:0025354	HP:0003079	Defective DNA repair after ultraviolet radiation damage	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MS4A2 CL E G H	2206	7316	OMIM:147050	Ige responsiveness, atopic		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever		150
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic		9
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy		1269
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency		14
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0025354	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	3	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D		82
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency		7
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency		32
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14		32
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency		1
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26		27
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency		40
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency		26
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency		31
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency		50
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency		34
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency		3
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency		9
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency		16
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24		16
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency		81
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency		65
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy		65
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency		22
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency		27
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency		21
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency		38
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency		42
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency		74
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency		27
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0025354	HP:0040012	Chromosome breakage	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0025354	HP:0003657	Granular osmiophilic deposits (GROD) in cells	3	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0025354	HP:0030886	Abnormal lymphocyte apoptosis	3	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency		89
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0025354	HP:0003148	Elevated serum acid phosphatase	3	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0025354	HP:0040012	Chromosome breakage	3	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0025354	HP:0031412	Abnormal telomere morphology	3	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6		26
HP:0025354	HP:0031412	Abnormal telomere morphology	3	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0025354	HP:0040012	Chromosome breakage	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency		37
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency		98
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency		98
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0025354	HP:0041048	Decreased expression of GPI-anchored proteins on the cell surface	3	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0025354	HP:0031553	Reduced granulocyte surface marker level	3	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0025354	HP:0011020	Abnormality of mucopolysaccharide metabolism	3	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040282 - Frequent
HP:0025354	HP:0040012	Chromosome breakage	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PLA2G7 CL E G H	7941	9040	OMIM:147050	Ige responsiveness, atopic		5
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.	45
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0025354	HP:0031412	Abnormal telomere morphology	3	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9		23
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome		7
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0025354	HP:0003148	Elevated serum acid phosphatase	3	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome		96
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome		948
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0025354	HP:0040012	Chromosome breakage	3	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD		789
HP:0025354	HP:0040012	Chromosome breakage	3	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		127
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		50
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0025354	HP:0003079	Defective DNA repair after ultraviolet radiation damage	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome		7
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0025354	HP:0040012	Chromosome breakage	3	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0025354	HP:0031412	Abnormal telomere morphology	3	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0025354	HP:0033997	Perinuclear cardiomyocyte vacuolization	3	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5		77
HP:0025354	HP:0031412	Abnormal telomere morphology	3	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0025354	HP:0031320	Cardiomyocyte mitochondrial proliferation	3	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	1200
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome		4
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy		304
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency		304
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0025354	HP:0003352	Endopolyploidy on chromosome studies of bone marrow	3	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II	.	60
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61		2
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy		110
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY		35
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG		11
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome		55
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0025354	HP:0040012	Chromosome breakage	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0025354	HP:0040012	Chromosome breakage	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0025354	HP:0040012	Chromosome breakage	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency		49
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent	171
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome		100
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SPPL2A CL E G H	84888	30227	OMIM:619549	IMMUNODEFICIENCY 86; IMD86
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	62
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2		12
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0025354	HP:0040012	Chromosome breakage	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy		73
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy		23
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome	HP:0040282 - Frequent
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	65
HP:0025354	HP:0003079	Defective DNA repair after ultraviolet radiation damage	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	20
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0025354	HP:0040012	Chromosome breakage	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0025354	HP:0031412	Abnormal telomere morphology	3	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0025354	HP:4000057	Decreased FasL-mediated apoptosis	3	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency		1
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0025354	HP:0031412	Abnormal telomere morphology	3	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0025354	HP:0031412	Abnormal telomere morphology	3	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome		60
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3		103
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency		4
HP:0025354	HP:0040012	Chromosome breakage	3	TMEM185A CL E G H	84548	17125	ORPHA:100974	FRAXF syndrome		3
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0025354	HP:0003148	Elevated serum acid phosphatase	3	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.	44
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TNFRSF13B CL E G H	23495	18153	OMIM:609529	Immunoglobulin A deficiency 2		32
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0031319	Cardiomyocyte hypertrophy	3	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A		180
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0025354	HP:0010998	Increased susceptibility to spontaneous sister chromatid exchange	3	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5		911
HP:0025354	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	3	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2	.	203
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0025354	HP:0040012	Chromosome breakage	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0025354	HP:0200024	Premature chromatid separation	3	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3	.	2
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0025354	HP:0200024	Premature chromatid separation	3	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3		43
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29		1
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TYK2 CL E G H	7297	12440	OMIM:611521	Immunodeficiency 35		77
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0025354	HP:0031412	Abnormal telomere morphology	3	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria		135
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria		135
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0025354	HP:0003287	Abnormality of mitochondrial metabolism	3	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0025354	HP:0031319	Cardiomyocyte hypertrophy	3	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0025354	HP:0008322	Abnormal mitochondrial morphology	3	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	63
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0025354	HP:0011840	Abnormality of T cell physiology	3	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0025354	HP:0031412	Abnormal telomere morphology	3	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3		40
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0025354	HP:0012177	Abnormal natural killer cell physiology	3	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0025354	HP:0003079	Defective DNA repair after ultraviolet radiation damage	3	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.	34
HP:0025354	HP:0003079	Defective DNA repair after ultraviolet radiation damage	3	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.	86
HP:0025354	HP:0040012	Chromosome breakage	3	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0025354	HP:0031378	Abnormal lymphocyte proliferation	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2		9
HP:0025354	HP:0031412	Abnormal telomere morphology	3	ZCCHC8 CL E G H	55596	25265	OMIM:618674	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5		1
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0025354	HP:0005372	Abnormality of B cell physiology	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0025354	HP:0020156	Abnormal zona pellucida morphology	3	ZP2 CL E G H	7783	13188	OMIM:618353	OOCYTE MATURATION DEFECT 6; OOMD6
HP:0025354	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	4	CL E G H
HP:0025354	HP:0008265	Mitochondrial lysine transport defect	4	CL E G H
HP:0025354	HP:0030887	Increased lymphocyte apoptosis	4	CL E G H
HP:0025354	HP:0031336	Intranuclear cardiomyocyte mitochondria	4	CL E G H
HP:0025354	HP:0031430	Oligoclonal T cell expansion	4	CL E G H
HP:0025354	HP:0031554	Reduced granulocyte CD55 level	4	CL E G H
HP:0025354	HP:0031556	Reduced granulocyte CD16 level	4	CL E G H
HP:0025354	HP:0031557	Reduced fibroblast CD55 level	4	CL E G H
HP:0025354	HP:0031558	Reduced fibroblast CD59 level	4	CL E G H
HP:0025354	HP:0031559	Reduced fibroblast CD16 level	4	CL E G H
HP:0025354	HP:0032455	Reduced granulocyte CD18 level	4	CL E G H
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0025354	HP:0003234	Decreased plasma carnitine	4	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency	.	58
HP:0025354	HP:0003234	Decreased plasma carnitine	4	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	58
HP:0025354	HP:0003234	Decreased plasma carnitine	4	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0025354	HP:0003234	Decreased plasma carnitine	4	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.	197
HP:0025354	HP:0003234	Decreased plasma carnitine	4	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0025354	HP:0003234	Decreased plasma carnitine	4	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0025354	HP:0005354	Lack of T cell function	4	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent	86
HP:0025354	HP:0002959	Impaired Ig class switch recombination	4	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2	.	58
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0025354	HP:0005354	Lack of T cell function	4	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia	.	19
HP:0025354	HP:0005435	Impaired T cell function	4	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia	.	19
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis		19
HP:0025354	HP:0010997	Chromosomal breakage induced by ionizing radiation	4	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	54
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia		104
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0025354	HP:0005435	Impaired T cell function	4	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0025354	HP:0005384	Defective B cell activation	4	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0025354	HP:0010997	Chromosomal breakage induced by ionizing radiation	4	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	184
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0025354	HP:0003221	Chromosomal breakage induced by crosslinking agents	4	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0025354	HP:0003221	Chromosomal breakage induced by crosslinking agents	4	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0025354	HP:0031379	Abnormal T cell proliferation	4	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0025354	HP:0410035	Abnormal T cell activation	4	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0025354	HP:0002731	Decreased lymphocyte apoptosis	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0025354	HP:0002963	Abnormal delayed hypersensitivity skin test	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0025354	HP:0410035	Abnormal T cell activation	4	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0002731	Decreased lymphocyte apoptosis	4	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0005384	Defective B cell activation	4	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CCND1 CL E G H	595	1582	OMIM:254500	Multiple myeloma		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0025354	HP:0005435	Impaired T cell function	4	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2	.	38
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	8
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome	HP:0040283 - Occasional
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	18
HP:0025354	HP:0005435	Impaired T cell function	4	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0025354	HP:0031379	Abnormal T cell proliferation	4	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	24
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0025354	HP:0002847	Impaired memory B cell generation	4	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3	.	27
HP:0025354	HP:0002959	Impaired Ig class switch recombination	4	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3	.	27
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0025354	HP:0410035	Abnormal T cell activation	4	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0025354	HP:0002847	Impaired memory B cell generation	4	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.	33
HP:0025354	HP:0002959	Impaired Ig class switch recombination	4	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.	33
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0025354	HP:0012102	Abnormal mitochondrial number	4	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0025354	HP:0002963	Abnormal delayed hypersensitivity skin test	4	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0025354	HP:0005354	Lack of T cell function	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040281 - Very frequent	118
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0025354	HP:0005435	Impaired T cell function	4	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease		373
HP:0025354	HP:0003234	Decreased plasma carnitine	4	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent	263
HP:0025354	HP:0003234	Decreased plasma carnitine	4	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa		263
HP:0025354	HP:0005435	Impaired T cell function	4	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	104
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0025354	HP:0003221	Chromosomal breakage induced by crosslinking agents	4	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0025354	HP:0003234	Decreased plasma carnitine	4	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0025354	HP:0003234	Decreased plasma carnitine	4	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0025354	HP:0003234	Decreased plasma carnitine	4	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0025354	HP:0005435	Impaired T cell function	4	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2	.	10
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome		12
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome	HP:0040283 - Occasional	10
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0025354	HP:0003234	Decreased plasma carnitine	4	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0025354	HP:0005435	Impaired T cell function	4	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0031379	Abnormal T cell proliferation	4	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0025354	HP:0003514	Deficiency or absence of cytochrome b(-245)	4	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.	27
HP:0025354	HP:0003514	Deficiency or absence of cytochrome b(-245)	4	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0025354	HP:0005435	Impaired T cell function	4	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0005435	Impaired T cell function	4	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0005435	Impaired T cell function	4	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.	82
HP:0025354	HP:0003234	Decreased plasma carnitine	4	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040283 - Occasional	89
HP:0025354	HP:0012102	Abnormal mitochondrial number	4	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome		41
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0025354	HP:0031379	Abnormal T cell proliferation	4	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12		80
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	33
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	.	33
HP:0025354	HP:0003234	Decreased plasma carnitine	4	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0025354	HP:0410035	Abnormal T cell activation	4	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0025354	HP:0002963	Abnormal delayed hypersensitivity skin test	4	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome		40
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0025354	HP:0003616	Premature separation of centromeric heterochromatin	4	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0025354	HP:0005435	Impaired T cell function	4	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0025354	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	4	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0025354	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	4	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0025354	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	4	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0025354	HP:0003221	Chromosomal breakage induced by crosslinking agents	4	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0025354	HP:0003221	Chromosomal breakage induced by crosslinking agents	4	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0025354	HP:0003221	Chromosomal breakage induced by crosslinking agents	4	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.	147
HP:0025354	HP:0003221	Chromosomal breakage induced by crosslinking agents	4	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0025354	HP:0003221	Chromosomal breakage induced by crosslinking agents	4	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0025354	HP:0003221	Chromosomal breakage induced by crosslinking agents	4	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0025354	HP:0003221	Chromosomal breakage induced by crosslinking agents	4	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0025354	HP:0002731	Decreased lymphocyte apoptosis	4	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0025354	HP:0002963	Abnormal delayed hypersensitivity skin test	4	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0002731	Decreased lymphocyte apoptosis	4	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0025354	HP:0002963	Abnormal delayed hypersensitivity skin test	4	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.	384
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0025354	HP:0012087	Abnormal mitochondrial shape	4	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040282 - Frequent
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	FLNA CL E G H	2316	3754	ORPHA:99811	Neuronal intestinal pseudoobstruction		493
HP:0025354	HP:0003564	Folate-dependent fragile site at Xq28	4	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0025354	HP:0003564	Folate-dependent fragile site at Xq28	4	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040281 - Very frequent	30
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	61
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency		61
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	61
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19		61
HP:0025354	HP:0003232	Mitochondrial malic enzyme reduced	4	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.	18
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0025354	HP:0003234	Decreased plasma carnitine	4	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay		14
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0025354	HP:0012087	Abnormal mitochondrial shape	4	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent	17
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0025354	HP:0003653	Cellular metachromasia	4	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0025354	HP:0005435	Impaired T cell function	4	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23		30
HP:0025354	HP:0012102	Abnormal mitochondrial number	4	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0025354	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	4	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.	41
HP:0025354	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	4	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040280 - Obligate	41
HP:0025354	HP:0003234	Decreased plasma carnitine	4	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	41
HP:0025354	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	4	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency	.	99
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4		6
HP:0025354	HP:0003653	Cellular metachromasia	4	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0025354	HP:0005435	Impaired T cell function	4	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0025354	HP:0003234	Decreased plasma carnitine	4	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0025354	HP:0005435	Impaired T cell function	4	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0025354	HP:0005435	Impaired T cell function	4	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IGKC CL E G H	3514	5716	OMIM:614102	Immunoglobulin kappa light chain deficiency	.	5
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15		4
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040281 - Very frequent	48
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040281 - Very frequent	48
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IL4R CL E G H	3566	6015	OMIM:147050	Ige responsiveness, atopic		3
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0025354	HP:0005384	Defective B cell activation	4	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0025354	HP:0008306	Abnormal iron deposition in mitochondria	4	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025354	HP:0002963	Abnormal delayed hypersensitivity skin test	4	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0025354	HP:0005354	Lack of T cell function	4	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040281 - Very frequent	140
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040281 - Very frequent	140
HP:0025354	HP:0005435	Impaired T cell function	4	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0025354	HP:0002731	Decreased lymphocyte apoptosis	4	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	KRT1 CL E G H	3848	6412	OMIM:144200	Palmoplantar keratoderma, epidermolytic		100
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	KRT9 CL E G H	3857	6447	OMIM:144200	Palmoplantar keratoderma, epidermolytic		66
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0025354	HP:0031379	Abnormal T cell proliferation	4	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0025354	HP:0410035	Abnormal T cell activation	4	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0025354	HP:0410035	Abnormal T cell activation	4	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0025354	HP:0005435	Impaired T cell function	4	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0031379	Abnormal T cell proliferation	4	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	LIG4 CL E G H	3981	6601	OMIM:254500	Multiple myeloma		88
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	21
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type		191
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant		3
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0025354	HP:0012087	Abnormal mitochondrial shape	4	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0025354	HP:0003221	Chromosomal breakage induced by crosslinking agents	4	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0025354	HP:0410035	Abnormal T cell activation	4	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0025354	HP:0003234	Decreased plasma carnitine	4	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0025354	HP:0031413	Short telomere length	4	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0025354	HP:0012087	Abnormal mitochondrial shape	4	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	17
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0025354	HP:0012102	Abnormal mitochondrial number	4	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome		11
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0003234	Decreased plasma carnitine	4	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG		37
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0025354	HP:0005435	Impaired T cell function	4	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0025354	HP:0031379	Abnormal T cell proliferation	4	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MS4A2 CL E G H	2206	7316	OMIM:147050	Ige responsiveness, atopic		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	29
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever		150
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic		9
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0025354	HP:0012087	Abnormal mitochondrial shape	4	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent	1269
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0025354	HP:0003234	Decreased plasma carnitine	4	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0025354	HP:0003234	Decreased plasma carnitine	4	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0025354	HP:0006916	Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material	4	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.	82
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	7
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency		7
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	91
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	32
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency		32
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14		32
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	7
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	3
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	19
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	4
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency		1
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26		27
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	40
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency		40
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	26
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency		26
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	26
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	31
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency		31
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	50
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency		50
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	34
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency		34
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	34
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	39
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0025354	HP:0003234	Decreased plasma carnitine	4	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	39
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	3
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency		3
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	9
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency		9
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	16
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency		16
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24		16
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	81
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency		81
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	81
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	65
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency		65
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent	65
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	65
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	22
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency		22
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	22
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency		27
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	21
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency		21
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	38
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency		38
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	38
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	42
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency		42
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	42
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	74
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency		74
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	74
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency		27
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0025354	HP:0030059	Mitochondrial depletion	4	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0025354	HP:0010997	Chromosomal breakage induced by ionizing radiation	4	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	220
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0025354	HP:0002731	Decreased lymphocyte apoptosis	4	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0025354	HP:0002963	Abnormal delayed hypersensitivity skin test	4	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0031379	Abnormal T cell proliferation	4	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	89
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency		89
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0025354	HP:0003221	Chromosomal breakage induced by crosslinking agents	4	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N	.	1349
HP:0025354	HP:0031413	Short telomere length	4	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6		26
HP:0025354	HP:0031413	Short telomere length	4	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0025354	HP:0010997	Chromosomal breakage induced by ionizing radiation	4	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	9
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	88
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040282 - Frequent	37
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040282 - Frequent	98
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency	HP:0040281 - Very frequent	52
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency	.	52
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	6
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0025354	HP:0012102	Abnormal mitochondrial number	4	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0025354	HP:0031379	Abnormal T cell proliferation	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0025354	HP:0031555	Reduced granulocyte CD59 level	4	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0025354	HP:0010997	Chromosomal breakage induced by ionizing radiation	4	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	162
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PLA2G7 CL E G H	7941	9040	OMIM:147050	Ige responsiveness, atopic		5
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0025354	HP:0005435	Impaired T cell function	4	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040281 - Very frequent	60
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0025354	HP:0031413	Short telomere length	4	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9		23
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	7
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome		96
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome		948
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0025354	HP:0002963	Abnormal delayed hypersensitivity skin test	4	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0025354	HP:0010997	Chromosomal breakage induced by ionizing radiation	4	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD		789
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0025354	HP:0031379	Abnormal T cell proliferation	4	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		127
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0025354	HP:0031379	Abnormal T cell proliferation	4	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		50
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0025354	HP:0005435	Impaired T cell function	4	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0031379	Abnormal T cell proliferation	4	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0025354	HP:0031380	Abnormal B cell proliferation	4	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0025354	HP:0002963	Abnormal delayed hypersensitivity skin test	4	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0025354	HP:0005354	Lack of T cell function	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040281 - Very frequent	38
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0025354	HP:0002963	Abnormal delayed hypersensitivity skin test	4	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0025354	HP:0005354	Lack of T cell function	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040281 - Very frequent	26
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0025354	HP:0002963	Abnormal delayed hypersensitivity skin test	4	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0025354	HP:0005354	Lack of T cell function	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040281 - Very frequent	34
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome		7
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0025354	HP:0010997	Chromosomal breakage induced by ionizing radiation	4	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040281 - Very frequent	7
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0025354	HP:0031413	Short telomere length	4	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0025354	HP:0005435	Impaired T cell function	4	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5		77
HP:0025354	HP:0031413	Short telomere length	4	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome		4
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0025354	HP:0003234	Decreased plasma carnitine	4	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	304
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy		304
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.	304
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency		304
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0025354	HP:0005435	Impaired T cell function	4	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	37
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61		2
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	110
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy		110
HP:0025354	HP:0003234	Decreased plasma carnitine	4	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0025354	HP:0003234	Decreased plasma carnitine	4	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent	40
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0025354	HP:0012087	Abnormal mitochondrial shape	4	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY		35
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0025354	HP:0003234	Decreased plasma carnitine	4	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	47
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0025354	HP:0005435	Impaired T cell function	4	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional	11
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG		11
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	55
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0025354	HP:0005435	Impaired T cell function	4	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0025354	HP:0010997	Chromosomal breakage induced by ionizing radiation	4	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	87
HP:0025354	HP:0010997	Chromosomal breakage induced by ionizing radiation	4	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	47
HP:0025354	HP:0010997	Chromosomal breakage induced by ionizing radiation	4	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	22
HP:0025354	HP:0041076	Abnormal immunoglobulin level in body fluid	4	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency		49
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome		100
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SPPL2A CL E G H	84888	30227	OMIM:619549	IMMUNODEFICIENCY 86; IMD86
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2		12
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0025354	HP:0012087	Abnormal mitochondrial shape	4	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional	60
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0025354	HP:0010997	Chromosomal breakage induced by ionizing radiation	4	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	124
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	73
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy		73
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0025354	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	4	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	23
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy		23
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0025354	HP:0005435	Impaired T cell function	4	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0025354	HP:0005435	Impaired T cell function	4	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0025354	HP:0005435	Impaired T cell function	4	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0025354	HP:0010997	Chromosomal breakage induced by ionizing radiation	4	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	238
HP:0025354	HP:0031413	Short telomere length	4	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0025354	HP:0410035	Abnormal T cell activation	4	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0005435	Impaired T cell function	4	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0031379	Abnormal T cell proliferation	4	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency		1
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0025354	HP:0031413	Short telomere length	4	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0025354	HP:0031413	Short telomere length	4	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome		60
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3		103
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	4
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency		4
HP:0025354	HP:0003564	Folate-dependent fragile site at Xq28	4	TMEM185A CL E G H	84548	17125	ORPHA:100974	FRAXF syndrome		3
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0025354	HP:0005435	Impaired T cell function	4	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TNFRSF13B CL E G H	23495	18153	OMIM:609529	Immunoglobulin A deficiency 2		32
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0025354	HP:0005435	Impaired T cell function	4	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2	.	12
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome	HP:0040283 - Occasional
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5		911
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0025354	HP:0010997	Chromosomal breakage induced by ionizing radiation	4	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040281 - Very frequent
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	HP:0040280 - Obligate	4
HP:0025354	HP:0200125	Mitochondrial respiratory chain defects	4	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.	101
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0025354	HP:0003234	Decreased plasma carnitine	4	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional	101
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0025354	HP:0003234	Decreased plasma carnitine	4	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0025354	HP:0008316	Abnormal mitochondria in muscle tissue	4	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3		43
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0025354	HP:0030059	Mitochondrial depletion	4	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.	7128
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29		1
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TYK2 CL E G H	7297	12440	OMIM:611521	Immunodeficiency 35		77
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0025354	HP:0031413	Short telomere length	4	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0025354	HP:0005435	Impaired T cell function	4	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0025354	HP:0005435	Impaired T cell function	4	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040282 - Frequent	135
HP:0025354	HP:0005435	Impaired T cell function	4	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	HP:0040283 - Occasional	135
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0025354	HP:0002959	Impaired Ig class switch recombination	4	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5	.	44
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0025354	HP:0011922	Abnormal activity of mitochondrial respiratory chain	4	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0025354	HP:0002963	Abnormal delayed hypersensitivity skin test	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0025354	HP:0005435	Impaired T cell function	4	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0025354	HP:0031379	Abnormal T cell proliferation	4	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0025354	HP:0031413	Short telomere length	4	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3		40
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0025354	HP:0012178	Reduced natural killer cell activity	4	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	81
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0025354	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	4	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040281 - Very frequent	46
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2		9
HP:0025354	HP:0031413	Short telomere length	4	ZCCHC8 CL E G H	55596	25265	OMIM:618674	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5		1
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0025354	HP:0010701	Abnormal immunoglobulin level	4	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0025354	HP:0020157	Thin zona pellucida	4	ZP2 CL E G H	7783	13188	OMIM:618353	OOCYTE MATURATION DEFECT 6; OOMD6
HP:0025354	HP:0003610	Fibroblast metachromasia	5	CL E G H
HP:0025354	HP:0031269	Abnormal CD25 upregulation upon TCR activation	5	CL E G H
HP:0025354	HP:0032336	Increased circulating specific IgE antibody	5	CL E G H
HP:0025354	HP:0040015	Increased activity of mitochondrial respiratory chain	5	CL E G H
HP:0025354	HP:0041077	Increased immunoglobulin level in body fluid	5	CL E G H
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0025354	HP:0011936	Decreased plasma total carnitine	5	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	197
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0025354	HP:0010702	Increased circulating antibody level	5	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0025354	HP:0010702	Increased circulating antibody level	5	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0025354	HP:0010702	Increased circulating antibody level	5	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	1
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0025354	HP:0004313	Decreased circulating antibody level	5	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0025354	HP:0010702	Increased circulating antibody level	5	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0025354	HP:0004313	Decreased circulating antibody level	5	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040281 - Very frequent	19
HP:0025354	HP:0010702	Increased circulating antibody level	5	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040282 - Frequent	104
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0025354	HP:0005357	Defective B cell differentiation	5	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0025354	HP:0004313	Decreased circulating antibody level	5	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0025354	HP:0004313	Decreased circulating antibody level	5	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0025354	HP:0004313	Decreased circulating antibody level	5	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0025354	HP:0004313	Decreased circulating antibody level	5	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0025354	HP:0004313	Decreased circulating antibody level	5	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040281 - Very frequent	314
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0025354	HP:0004313	Decreased circulating antibody level	5	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0025354	HP:0004313	Decreased circulating antibody level	5	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.	14
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0004313	Decreased circulating antibody level	5	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0004313	Decreased circulating antibody level	5	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0025354	HP:0004313	Decreased circulating antibody level	5	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0025354	HP:0010702	Increased circulating antibody level	5	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency	.	45
HP:0025354	HP:0031402	Reduced antigen-specific T cell proliferation	5	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0025354	HP:0010702	Increased circulating antibody level	5	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0025354	HP:0005419	Decreased T cell activation	5	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0025354	HP:0010702	Increased circulating antibody level	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0025354	HP:0002972	Reduced delayed hypersensitivity	5	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0025354	HP:0010702	Increased circulating antibody level	5	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0025354	HP:0033278	Reduced CD95-induced lymphocyte apoptosis	5	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0005419	Decreased T cell activation	5	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	147
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma		1
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040282 - Frequent	1
HP:0025354	HP:0010702	Increased circulating antibody level	5	CCND1 CL E G H	595	1582	OMIM:254500	Multiple myeloma		1
HP:0025354	HP:0010702	Increased circulating antibody level	5	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	38
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0010702	Increased circulating antibody level	5	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0025354	HP:0010702	Increased circulating antibody level	5	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0025354	HP:0010702	Increased circulating antibody level	5	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0025354	HP:0030253	Defective T cell proliferation	5	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18	HP:0040283 - Occasional	24
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0025354	HP:0010702	Increased circulating antibody level	5	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0025354	HP:0010702	Increased circulating antibody level	5	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0025354	HP:0005419	Decreased T cell activation	5	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.	33
HP:0025354	HP:0010702	Increased circulating antibody level	5	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent	4
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0025354	HP:0010702	Increased circulating antibody level	5	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0025354	HP:0010702	Increased circulating antibody level	5	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0025354	HP:0040014	Increased mitochondrial number	5	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent	11
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0025354	HP:0002965	Cutaneous anergy	5	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2	.	3
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0025354	HP:0004313	Decreased circulating antibody level	5	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0025354	HP:0010702	Increased circulating antibody level	5	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040283 - Occasional	373
HP:0025354	HP:0011936	Decreased plasma total carnitine	5	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa		263
HP:0025354	HP:0010702	Increased circulating antibody level	5	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa		263
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	104
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0025354	HP:0008315	Decreased plasma free carnitine	5	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040281 - Very frequent	101
HP:0025354	HP:0011936	Decreased plasma total carnitine	5	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040281 - Very frequent	101
HP:0025354	HP:0008315	Decreased plasma free carnitine	5	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0025354	HP:0011936	Decreased plasma total carnitine	5	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0025354	HP:0008315	Decreased plasma free carnitine	5	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0025354	HP:0011936	Decreased plasma total carnitine	5	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome		12
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome		12
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	HP:0040283 - Occasional	12
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0030253	Defective T cell proliferation	5	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0031402	Reduced antigen-specific T cell proliferation	5	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0025354	HP:0004313	Decreased circulating antibody level	5	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040282 - Frequent	9
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0025354	HP:0004313	Decreased circulating antibody level	5	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0025354	HP:0004313	Decreased circulating antibody level	5	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0025354	HP:0010702	Increased circulating antibody level	5	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.	57
HP:0025354	HP:0040013	Decreased mitochondrial number	5	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent	41
HP:0025354	HP:0004313	Decreased circulating antibody level	5	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent	79
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0025354	HP:0004313	Decreased circulating antibody level	5	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0025354	HP:0010702	Increased circulating antibody level	5	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0025354	HP:0031402	Reduced antigen-specific T cell proliferation	5	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0025354	HP:0010702	Increased circulating antibody level	5	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0025354	HP:0004313	Decreased circulating antibody level	5	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0025354	HP:0010702	Increased circulating antibody level	5	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12		80
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	33
HP:0025354	HP:0010702	Increased circulating antibody level	5	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome		40
HP:0025354	HP:0002965	Cutaneous anergy	5	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0025354	HP:0004313	Decreased circulating antibody level	5	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome		40
HP:0025354	HP:0004313	Decreased circulating antibody level	5	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0025354	HP:0005419	Decreased T cell activation	5	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0025354	HP:0004313	Decreased circulating antibody level	5	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0025354	HP:0004313	Decreased circulating antibody level	5	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0025354	HP:0010702	Increased circulating antibody level	5	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0002972	Reduced delayed hypersensitivity	5	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0025354	HP:0004313	Decreased circulating antibody level	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0010702	Increased circulating antibody level	5	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0010702	Increased circulating antibody level	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0002972	Reduced delayed hypersensitivity	5	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0025354	HP:0004313	Decreased circulating antibody level	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0010702	Increased circulating antibody level	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0025354	HP:0010702	Increased circulating antibody level	5	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0004313	Decreased circulating antibody level	5	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	114
HP:0025354	HP:0004313	Decreased circulating antibody level	5	FLNA CL E G H	2316	3754	ORPHA:99811	Neuronal intestinal pseudoobstruction	HP:0040281 - Very frequent	493
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0025354	HP:0010702	Increased circulating antibody level	5	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0025354	HP:0010702	Increased circulating antibody level	5	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency		61
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	61
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19		61
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0025354	HP:0010702	Increased circulating antibody level	5	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0025354	HP:0010702	Increased circulating antibody level	5	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040282 - Frequent
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay		14
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0025354	HP:0033686	Mitochondrial hypertrophy	5	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0025354	HP:0010702	Increased circulating antibody level	5	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0025354	HP:0010702	Increased circulating antibody level	5	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0025354	HP:0010702	Increased circulating antibody level	5	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0025354	HP:0004313	Decreased circulating antibody level	5	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0025354	HP:0004313	Decreased circulating antibody level	5	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0025354	HP:0010702	Increased circulating antibody level	5	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23		30
HP:0025354	HP:0040014	Increased mitochondrial number	5	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent	18
HP:0025354	HP:0004313	Decreased circulating antibody level	5	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent	6
HP:0025354	HP:0004313	Decreased circulating antibody level	5	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4		6
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025354	HP:0010702	Increased circulating antibody level	5	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2
HP:0025354	HP:0004313	Decreased circulating antibody level	5	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia	.
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0010702	Increased circulating antibody level	5	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	HP:0040283 - Occasional	28
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0025354	HP:0010702	Increased circulating antibody level	5	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0025354	HP:0010702	Increased circulating antibody level	5	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15	.	4
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0025354	HP:0010702	Increased circulating antibody level	5	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0025354	HP:0010702	Increased circulating antibody level	5	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0010702	Increased circulating antibody level	5	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0025354	HP:0010702	Increased circulating antibody level	5	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0025354	HP:0010702	Increased circulating antibody level	5	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0025354	HP:0010702	Increased circulating antibody level	5	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0025354	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	5	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0025354	HP:0010702	Increased circulating antibody level	5	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity	.
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0025354	HP:0010702	Increased circulating antibody level	5	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	IL4R CL E G H	3566	6015	OMIM:147050	Ige responsiveness, atopic		3
HP:0025354	HP:0010702	Increased circulating antibody level	5	IL4R CL E G H	3566	6015	OMIM:147050	Ige responsiveness, atopic		3
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0025354	HP:0010702	Increased circulating antibody level	5	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0025354	HP:0010702	Increased circulating antibody level	5	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0025354	HP:0010702	Increased circulating antibody level	5	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0025354	HP:0010702	Increased circulating antibody level	5	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0025354	HP:0010702	Increased circulating antibody level	5	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0025354	HP:0010702	Increased circulating antibody level	5	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	4
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0025354	HP:0005357	Defective B cell differentiation	5	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0025354	HP:0010702	Increased circulating antibody level	5	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025354	HP:0004313	Decreased circulating antibody level	5	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025354	HP:0002965	Cutaneous anergy	5	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type	.	140
HP:0025354	HP:0004313	Decreased circulating antibody level	5	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0025354	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	5	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0025354	HP:0004313	Decreased circulating antibody level	5	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin		1
HP:0025354	HP:0010702	Increased circulating antibody level	5	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin		1
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0025354	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	5	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0025354	HP:0010702	Increased circulating antibody level	5	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	KRT1 CL E G H	3848	6412	OMIM:144200	Palmoplantar keratoderma, epidermolytic		100
HP:0025354	HP:0010702	Increased circulating antibody level	5	KRT1 CL E G H	3848	6412	OMIM:144200	Palmoplantar keratoderma, epidermolytic		100
HP:0025354	HP:0004313	Decreased circulating antibody level	5	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional	110
HP:0025354	HP:0004313	Decreased circulating antibody level	5	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional	173
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0025354	HP:0010702	Increased circulating antibody level	5	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	KRT9 CL E G H	3857	6447	OMIM:144200	Palmoplantar keratoderma, epidermolytic		66
HP:0025354	HP:0010702	Increased circulating antibody level	5	KRT9 CL E G H	3857	6447	OMIM:144200	Palmoplantar keratoderma, epidermolytic		66
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0025354	HP:0031402	Reduced antigen-specific T cell proliferation	5	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0025354	HP:0005419	Decreased T cell activation	5	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0025354	HP:0005419	Decreased T cell activation	5	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0004313	Decreased circulating antibody level	5	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0030253	Defective T cell proliferation	5	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0010702	Increased circulating antibody level	5	LIG4 CL E G H	3981	6601	OMIM:254500	Multiple myeloma		88
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	21
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0025354	HP:0004313	Decreased circulating antibody level	5	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type		191
HP:0025354	HP:0004313	Decreased circulating antibody level	5	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant		3
HP:0025354	HP:0004313	Decreased circulating antibody level	5	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0025354	HP:0030774	Mitochondrial swelling	5	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0025354	HP:0004313	Decreased circulating antibody level	5	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0025354	HP:0005419	Decreased T cell activation	5	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0025354	HP:0031267	Abnormal CD69 upregulation upon TCR activation	5	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0025354	HP:0004313	Decreased circulating antibody level	5	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0025354	HP:0004313	Decreased circulating antibody level	5	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0025354	HP:0040013	Decreased mitochondrial number	5	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent	11
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0010702	Increased circulating antibody level	5	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0011936	Decreased plasma total carnitine	5	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0025354	HP:0004313	Decreased circulating antibody level	5	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.	37
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG		37
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG		37
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG		37
HP:0025354	HP:0004313	Decreased circulating antibody level	5	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040282 - Frequent	37
HP:0025354	HP:0004313	Decreased circulating antibody level	5	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0025354	HP:0030253	Defective T cell proliferation	5	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0025354	HP:0004313	Decreased circulating antibody level	5	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	MS4A2 CL E G H	2206	7316	OMIM:147050	Ige responsiveness, atopic		1
HP:0025354	HP:0010702	Increased circulating antibody level	5	MS4A2 CL E G H	2206	7316	OMIM:147050	Ige responsiveness, atopic		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50	.	2
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0025354	HP:0010702	Increased circulating antibody level	5	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	29
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0025354	HP:0004313	Decreased circulating antibody level	5	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0025354	HP:0004313	Decreased circulating antibody level	5	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0025354	HP:0004313	Decreased circulating antibody level	5	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0025354	HP:0010702	Increased circulating antibody level	5	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic	.	133
HP:0025354	HP:0410244	Abnormal circulating IgD level	5	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0025354	HP:0010702	Increased circulating antibody level	5	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever		150
HP:0025354	HP:0010702	Increased circulating antibody level	5	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever		150
HP:0025354	HP:0410244	Abnormal circulating IgD level	5	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0025354	HP:0010702	Increased circulating antibody level	5	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic		9
HP:0025354	HP:0010702	Increased circulating antibody level	5	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic		9
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0025354	HP:0010702	Increased circulating antibody level	5	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0025354	HP:0030774	Mitochondrial swelling	5	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent	227
HP:0025354	HP:0004313	Decreased circulating antibody level	5	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	.
HP:0025354	HP:0008315	Decreased plasma free carnitine	5	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.	14
HP:0025354	HP:0004313	Decreased circulating antibody level	5	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0025354	HP:0010702	Increased circulating antibody level	5	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency		7
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	91
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency		32
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14		32
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	7
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	3
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	19
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	4
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency		1
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26		27
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency		40
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency		26
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	26
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency		31
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency		50
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency		34
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	34
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	39
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency		3
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency		9
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency		16
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24		16
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency		81
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	81
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency		65
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	65
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency		22
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	22
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency		27
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency		21
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency		38
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	38
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency		42
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	42
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency		74
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	74
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency		27
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0025354	HP:0004313	Decreased circulating antibody level	5	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	.	20
HP:0025354	HP:0004313	Decreased circulating antibody level	5	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	7
HP:0025354	HP:0004313	Decreased circulating antibody level	5	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0025354	HP:0004313	Decreased circulating antibody level	5	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	11
HP:0025354	HP:0004313	Decreased circulating antibody level	5	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0025354	HP:0004313	Decreased circulating antibody level	5	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	.	34
HP:0025354	HP:0004313	Decreased circulating antibody level	5	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0025354	HP:0004313	Decreased circulating antibody level	5	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0025354	HP:0010702	Increased circulating antibody level	5	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0025354	HP:0010702	Increased circulating antibody level	5	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0002972	Reduced delayed hypersensitivity	5	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0010702	Increased circulating antibody level	5	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0031402	Reduced antigen-specific T cell proliferation	5	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency		89
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0025354	HP:0004313	Decreased circulating antibody level	5	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia	.	2
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0025354	HP:0010702	Increased circulating antibody level	5	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	88
HP:0025354	HP:0010702	Increased circulating antibody level	5	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	6
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0025354	HP:0040014	Increased mitochondrial number	5	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0025354	HP:0010702	Increased circulating antibody level	5	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0025354	HP:0010702	Increased circulating antibody level	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0025354	HP:0031402	Reduced antigen-specific T cell proliferation	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0025354	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	5	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0025354	HP:0010702	Increased circulating antibody level	5	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	.	43
HP:0025354	HP:0010702	Increased circulating antibody level	5	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	PLA2G7 CL E G H	7941	9040	OMIM:147050	Ige responsiveness, atopic		5
HP:0025354	HP:0010702	Increased circulating antibody level	5	PLA2G7 CL E G H	7941	9040	OMIM:147050	Ige responsiveness, atopic		5
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0025354	HP:0004313	Decreased circulating antibody level	5	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0025354	HP:0010702	Increased circulating antibody level	5	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2	.	2
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0010702	Increased circulating antibody level	5	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	58
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0025354	HP:0010702	Increased circulating antibody level	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0025354	HP:0010702	Increased circulating antibody level	5	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0025354	HP:0010702	Increased circulating antibody level	5	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0025354	HP:0010702	Increased circulating antibody level	5	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0025354	HP:0010702	Increased circulating antibody level	5	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0025354	HP:0010702	Increased circulating antibody level	5	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	HP:0040282 - Frequent	96
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	HP:0040284 - Very rare	948
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	HP:0040284 - Very rare	948
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0025354	HP:0004313	Decreased circulating antibody level	5	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0025354	HP:0002972	Reduced delayed hypersensitivity	5	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0025354	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	5	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	127
HP:0025354	HP:0031402	Reduced antigen-specific T cell proliferation	5	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		127
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	50
HP:0025354	HP:0031402	Reduced antigen-specific T cell proliferation	5	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		50
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0025354	HP:0010702	Increased circulating antibody level	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0010702	Increased circulating antibody level	5	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0030253	Defective T cell proliferation	5	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0025354	HP:0002965	Cutaneous anergy	5	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0025354	HP:0002965	Cutaneous anergy	5	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0025354	HP:0002965	Cutaneous anergy	5	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome		7
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome		7
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0025354	HP:0004313	Decreased circulating antibody level	5	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5	.	77
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040283 - Occasional	4
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0025354	HP:0010702	Increased circulating antibody level	5	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional	77
HP:0025354	HP:0008315	Decreased plasma free carnitine	5	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	304
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency		304
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0025354	HP:0010702	Increased circulating antibody level	5	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0025354	HP:0010702	Increased circulating antibody level	5	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	.	162
HP:0025354	HP:0010702	Increased circulating antibody level	5	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic	.	10
HP:0025354	HP:0010702	Increased circulating antibody level	5	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic	.	33
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0025354	HP:0010702	Increased circulating antibody level	5	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61		2
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	110
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG		11
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040281 - Very frequent	101
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040284 - Very rare	104
HP:0025354	HP:0010702	Increased circulating antibody level	5	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040284 - Very rare	104
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0025354	HP:0041078	Decreased immunoglobulin level in body fluid	5	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency		49
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency		49
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0010702	Increased circulating antibody level	5	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome		100
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040282 - Frequent	100
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0025354	HP:0010702	Increased circulating antibody level	5	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0025354	HP:0010702	Increased circulating antibody level	5	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome		100
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	SPPL2A CL E G H	84888	30227	OMIM:619549	IMMUNODEFICIENCY 86; IMD86
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	SPPL2A CL E G H	84888	30227	OMIM:619549	IMMUNODEFICIENCY 86; IMD86
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SPPL2A CL E G H	84888	30227	OMIM:619549	IMMUNODEFICIENCY 86; IMD86
HP:0025354	HP:0010702	Increased circulating antibody level	5	SPPL2A CL E G H	84888	30227	OMIM:619549	IMMUNODEFICIENCY 86; IMD86
HP:0025354	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	5	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0025354	HP:0004313	Decreased circulating antibody level	5	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0025354	HP:0004313	Decreased circulating antibody level	5	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0025354	HP:0010702	Increased circulating antibody level	5	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0025354	HP:0010702	Increased circulating antibody level	5	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2		12
HP:0025354	HP:0010702	Increased circulating antibody level	5	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2		12
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0025354	HP:0010702	Increased circulating antibody level	5	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0025354	HP:0004313	Decreased circulating antibody level	5	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	85
HP:0025354	HP:0004313	Decreased circulating antibody level	5	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	70
HP:0025354	HP:0004313	Decreased circulating antibody level	5	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.	66
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	73
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	23
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0025354	HP:0010702	Increased circulating antibody level	5	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040282 - Frequent	57
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0025354	HP:0010702	Increased circulating antibody level	5	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic	.	238
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0005419	Decreased T cell activation	5	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0010702	Increased circulating antibody level	5	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0030253	Defective T cell proliferation	5	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency		1
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	.	103
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency		4
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	TNFRSF13B CL E G H	23495	18153	OMIM:609529	Immunoglobulin A deficiency 2		32
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TNFRSF13B CL E G H	23495	18153	OMIM:609529	Immunoglobulin A deficiency 2		32
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	12
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0010702	Increased circulating antibody level	5	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0025354	HP:0010702	Increased circulating antibody level	5	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5	.	911
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0025354	HP:0010702	Increased circulating antibody level	5	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3		43
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29		1
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	TYK2 CL E G H	7297	12440	OMIM:611521	Immunodeficiency 35		77
HP:0025354	HP:0010702	Increased circulating antibody level	5	TYK2 CL E G H	7297	12440	OMIM:611521	Immunodeficiency 35		77
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	116
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0025354	HP:0004313	Decreased circulating antibody level	5	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0025354	HP:0010702	Increased circulating antibody level	5	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0025354	HP:0008972	Decreased activity of mitochondrial respiratory chain	5	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0025354	HP:0004313	Decreased circulating antibody level	5	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0025354	HP:0010702	Increased circulating antibody level	5	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0025354	HP:0010702	Increased circulating antibody level	5	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0025354	HP:0010702	Increased circulating antibody level	5	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive	.	7
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0025354	HP:0010702	Increased circulating antibody level	5	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0025354	HP:0410240	Abnormal circulating IgA level	5	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0025354	HP:0410241	Abnormal circulating IgE level	5	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0025354	HP:0004313	Decreased circulating antibody level	5	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0025354	HP:0010702	Increased circulating antibody level	5	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0025354	HP:0030253	Defective T cell proliferation	5	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0025354	HP:0410242	Abnormal circulating IgG level	5	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0025354	HP:0410243	Abnormal circulating IgM level	5	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0025354	HP:0004313	Decreased circulating antibody level	5	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0025354	HP:0010702	Increased circulating antibody level	5	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0025354	HP:0004313	Decreased circulating antibody level	5	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent	9
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.	9
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0025354	HP:0004313	Decreased circulating antibody level	5	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0025354	HP:0005432	Transient hypogammaglobulinemia of infancy	6	CL E G H
HP:0025354	HP:0031270	Decreased CD25 upregulation upon TCR activation	6	CL E G H
HP:0025354	HP:0410221	Increased anti-animal protein IgE antibody level	6	CL E G H
HP:0025354	HP:0410223	Increased anti-dust mite IgE antibody level	6	CL E G H
HP:0025354	HP:0410224	Increased anti-bacteria IgE antibody level	6	CL E G H
HP:0025354	HP:0410225	Increased anti-drug IgE antibody level	6	CL E G H
HP:0025354	HP:0410226	Increased anti-feather IgE antibody level	6	CL E G H
HP:0025354	HP:0410227	Increased anti-food allergen IgE antibody level	6	CL E G H
HP:0025354	HP:0410232	Increased anti-fungi IgE antibody level	6	CL E G H
HP:0025354	HP:0410234	Increased anti-parasite IgE antibody level	6	CL E G H
HP:0025354	HP:0410235	Increased anti-insect IgE antibody level	6	CL E G H
HP:0025354	HP:0410238	Increased anti-plant product IgE antibody level	6	CL E G H
HP:0025354	HP:0410245	Decreased circulating IgD	6	CL E G H
HP:0025354	HP:0410249	Increased anti-alpha-gal IgE antibody level	6	CL E G H
HP:0025354	HP:0410367	Increased hepatitis A virus antibody level	6	CL E G H
HP:0025354	HP:0410369	Increased hepatitis B virus antibody level	6	CL E G H
HP:0025354	HP:0410371	Increased hepatitis C virus antibody level	6	CL E G H
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040280 - Obligate	98
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0025354	HP:0003212	Increased circulating IgE level	6	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0025354	HP:0002720	Decreased circulating IgA level	6	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0025354	HP:0002850	Decreased circulating total IgM	6	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0025354	HP:0003212	Increased circulating IgE level	6	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0025354	HP:0004315	Decreased circulating IgG level	6	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0025354	HP:0002850	Decreased circulating total IgM	6	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0025354	HP:0003212	Increased circulating IgE level	6	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0025354	HP:0002720	Decreased circulating IgA level	6	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2	.	58
HP:0025354	HP:0003496	Increased circulating IgM level	6	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0025354	HP:0004315	Decreased circulating IgG level	6	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2	.	58
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0025354	HP:0002850	Decreased circulating total IgM	6	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0025354	HP:0004315	Decreased circulating IgG level	6	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0025354	HP:0002720	Decreased circulating IgA level	6	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0025354	HP:0004315	Decreased circulating IgG level	6	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0025354	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	6	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0025354	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	6	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0025354	HP:0002720	Decreased circulating IgA level	6	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0025354	HP:0002850	Decreased circulating total IgM	6	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0025354	HP:0004315	Decreased circulating IgG level	6	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0025354	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	6	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0025354	HP:0004315	Decreased circulating IgG level	6	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43	.	8
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0025354	HP:0002720	Decreased circulating IgA level	6	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0025354	HP:0002850	Decreased circulating total IgM	6	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0025354	HP:0004315	Decreased circulating IgG level	6	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0025354	HP:0005479	Decreased circulating IgE	6	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0025354	HP:0002720	Decreased circulating IgA level	6	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0025354	HP:0002720	Decreased circulating IgA level	6	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0025354	HP:0002850	Decreased circulating total IgM	6	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0025354	HP:0002850	Decreased circulating total IgM	6	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0025354	HP:0004315	Decreased circulating IgG level	6	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0025354	HP:0004315	Decreased circulating IgG level	6	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0025354	HP:0002720	Decreased circulating IgA level	6	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0025354	HP:0002850	Decreased circulating total IgM	6	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0025354	HP:0004315	Decreased circulating IgG level	6	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0025354	HP:0004432	Agammaglobulinemia	6	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive	.	4
HP:0025354	HP:0004432	Agammaglobulinemia	6	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	4
HP:0025354	HP:0008314	Decreased activity of mitochondrial complex II	6	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0025354	HP:0002720	Decreased circulating IgA level	6	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0002850	Decreased circulating total IgM	6	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0004315	Decreased circulating IgG level	6	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0004432	Agammaglobulinemia	6	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.	109
HP:0025354	HP:0005479	Decreased circulating IgE	6	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0025354	HP:0004432	Agammaglobulinemia	6	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent	109
HP:0025354	HP:0003212	Increased circulating IgE level	6	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0025354	HP:0003237	Increased circulating IgG level	6	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0025354	HP:0003261	Increased circulating IgA level	6	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0025354	HP:0002720	Decreased circulating IgA level	6	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0025354	HP:0002850	Decreased circulating total IgM	6	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0025354	HP:0004432	Agammaglobulinemia	6	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0025354	HP:0003212	Increased circulating IgE level	6	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent	35
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent	35
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent	35
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0025354	HP:0002850	Decreased circulating total IgM	6	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0025354	HP:0003212	Increased circulating IgE level	6	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0025354	HP:0003237	Increased circulating IgG level	6	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0025354	HP:0003261	Increased circulating IgA level	6	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0025354	HP:0003237	Increased circulating IgG level	6	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0025354	HP:0003261	Increased circulating IgA level	6	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0025354	HP:0003496	Increased circulating IgM level	6	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0025354	HP:0002720	Decreased circulating IgA level	6	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0002850	Decreased circulating total IgM	6	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0002720	Decreased circulating IgA level	6	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0025354	HP:0003237	Increased circulating IgG level	6	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040282 - Frequent	1
HP:0025354	HP:0003261	Increased circulating IgA level	6	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040283 - Occasional	1
HP:0025354	HP:0031047	Paraproteinemia	6	CCND1 CL E G H	595	1582	OMIM:254500	Multiple myeloma	.	1
HP:0025354	HP:0002720	Decreased circulating IgA level	6	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0025354	HP:0002720	Decreased circulating IgA level	6	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0025354	HP:0002850	Decreased circulating total IgM	6	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0025354	HP:0003212	Increased circulating IgE level	6	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0003237	Increased circulating IgG level	6	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0003261	Increased circulating IgA level	6	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0003496	Increased circulating IgM level	6	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0002720	Decreased circulating IgA level	6	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	8
HP:0025354	HP:0002720	Decreased circulating IgA level	6	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	18
HP:0025354	HP:0002720	Decreased circulating IgA level	6	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	24
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0025354	HP:0002720	Decreased circulating IgA level	6	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3	.	27
HP:0025354	HP:0003496	Increased circulating IgM level	6	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3	.	27
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3	.	27
HP:0025354	HP:0005479	Decreased circulating IgE	6	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3	.	27
HP:0025354	HP:0002720	Decreased circulating IgA level	6	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.	33
HP:0025354	HP:0002961	Dysgammaglobulinemia	6	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.	33
HP:0025354	HP:0003261	Increased circulating IgA level	6	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0025354	HP:0003496	Increased circulating IgM level	6	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.	33
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.	33
HP:0025354	HP:0005479	Decreased circulating IgE	6	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.	33
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0025354	HP:0004432	Agammaglobulinemia	6	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive	.	9
HP:0025354	HP:0004432	Agammaglobulinemia	6	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	9
HP:0025354	HP:0002720	Decreased circulating IgA level	6	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0025354	HP:0002850	Decreased circulating total IgM	6	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0025354	HP:0004432	Agammaglobulinemia	6	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.	6
HP:0025354	HP:0004432	Agammaglobulinemia	6	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	6
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0025354	HP:0004432	Agammaglobulinemia	6	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3	.	4
HP:0025354	HP:0003212	Increased circulating IgE level	6	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0025354	HP:0003212	Increased circulating IgE level	6	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1	.	7
HP:0025354	HP:0008314	Decreased activity of mitochondrial complex II	6	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0025354	HP:0004432	Agammaglobulinemia	6	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0025354	HP:0002850	Decreased circulating total IgM	6	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.	1
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.	1
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0025354	HP:0003212	Increased circulating IgE level	6	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040284 - Very rare	263
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0025354	HP:0002720	Decreased circulating IgA level	6	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0025354	HP:0002720	Decreased circulating IgA level	6	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0002720	Decreased circulating IgA level	6	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.	12
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.	12
HP:0025354	HP:0002720	Decreased circulating IgA level	6	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0025354	HP:0002850	Decreased circulating total IgM	6	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0004315	Decreased circulating IgG level	6	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome	.	9
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0025354	HP:0002720	Decreased circulating IgA level	6	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040282 - Frequent	94
HP:0025354	HP:0004315	Decreased circulating IgG level	6	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040282 - Frequent	94
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation	.	94
HP:0025354	HP:0003212	Increased circulating IgE level	6	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0025354	HP:0002720	Decreased circulating IgA level	6	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0025354	HP:0003496	Increased circulating IgM level	6	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0025354	HP:0003212	Increased circulating IgE level	6	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0025354	HP:0002850	Decreased circulating total IgM	6	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0025354	HP:0003212	Increased circulating IgE level	6	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0025354	HP:0003237	Increased circulating IgG level	6	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0025354	HP:0004315	Decreased circulating IgG level	6	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0025354	HP:0004315	Decreased circulating IgG level	6	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040283 - Occasional	40
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0025354	HP:0004315	Decreased circulating IgG level	6	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.	106
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0025354	HP:0002850	Decreased circulating total IgM	6	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0025354	HP:0003212	Increased circulating IgE level	6	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0025354	HP:0004315	Decreased circulating IgG level	6	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0025354	HP:0002850	Decreased circulating total IgM	6	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0025354	HP:0003212	Increased circulating IgE level	6	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0025354	HP:0003237	Increased circulating IgG level	6	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0025354	HP:0003237	Increased circulating IgG level	6	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0025354	HP:0003261	Increased circulating IgA level	6	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0025354	HP:0003261	Increased circulating IgA level	6	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0025354	HP:0003496	Increased circulating IgM level	6	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0025354	HP:0004315	Decreased circulating IgG level	6	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0025354	HP:0002850	Decreased circulating total IgM	6	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0025354	HP:0003212	Increased circulating IgE level	6	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0025354	HP:0003237	Increased circulating IgG level	6	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0025354	HP:0003237	Increased circulating IgG level	6	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0025354	HP:0003261	Increased circulating IgA level	6	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0025354	HP:0003261	Increased circulating IgA level	6	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0025354	HP:0003496	Increased circulating IgM level	6	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0025354	HP:0004315	Decreased circulating IgG level	6	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0025354	HP:0002850	Decreased circulating total IgM	6	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0025354	HP:0004315	Decreased circulating IgG level	6	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0025354	HP:0004432	Agammaglobulinemia	6	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0025354	HP:0003212	Increased circulating IgE level	6	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040282 - Frequent	32
HP:0025354	HP:0003212	Increased circulating IgE level	6	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	61
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19		61
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0025354	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	6	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0025354	HP:0003212	Increased circulating IgE level	6	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent	73
HP:0025354	HP:0003212	Increased circulating IgE level	6	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0025354	HP:0003496	Increased circulating IgM level	6	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0025354	HP:0003261	Increased circulating IgA level	6	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional	30
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional	30
HP:0025354	HP:0004432	Agammaglobulinemia	6	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4	.	6
HP:0025354	HP:0002720	Decreased circulating IgA level	6	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0025354	HP:0002720	Decreased circulating IgA level	6	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0025354	HP:0008314	Decreased activity of mitochondrial complex II	6	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent	16
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent	16
HP:0025354	HP:0002720	Decreased circulating IgA level	6	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0025354	HP:0002850	Decreased circulating total IgM	6	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0025354	HP:0004315	Decreased circulating IgG level	6	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0025354	HP:0002720	Decreased circulating IgA level	6	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0004315	Decreased circulating IgG level	6	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0003237	Increased circulating IgG level	6	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0025354	HP:0004315	Decreased circulating IgG level	6	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0025354	HP:0003237	Increased circulating IgG level	6	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0025354	HP:0003496	Increased circulating IgM level	6	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0025354	HP:0002720	Decreased circulating IgA level	6	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0025354	HP:0002850	Decreased circulating total IgM	6	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0025354	HP:0004315	Decreased circulating IgG level	6	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0025354	HP:0004432	Agammaglobulinemia	6	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0025354	HP:0004432	Agammaglobulinemia	6	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	7
HP:0025354	HP:0002720	Decreased circulating IgA level	6	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0025354	HP:0002850	Decreased circulating total IgM	6	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0025354	HP:0004315	Decreased circulating IgG level	6	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0025354	HP:0002720	Decreased circulating IgA level	6	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0025354	HP:0002850	Decreased circulating total IgM	6	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0025354	HP:0004432	Agammaglobulinemia	6	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive	.	3
HP:0025354	HP:0004432	Agammaglobulinemia	6	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	3
HP:0025354	HP:0004432	Agammaglobulinemia	6	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15	.	4
HP:0025354	HP:0002850	Decreased circulating total IgM	6	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0025354	HP:0004315	Decreased circulating IgG level	6	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0025354	HP:0002961	Dysgammaglobulinemia	6	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0025354	HP:0003261	Increased circulating IgA level	6	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0025354	HP:0003496	Increased circulating IgM level	6	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0025354	HP:0002850	Decreased circulating total IgM	6	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0025354	HP:0003261	Increased circulating IgA level	6	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0025354	HP:0003261	Increased circulating IgA level	6	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0025354	HP:0003496	Increased circulating IgM level	6	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0025354	HP:0003261	Increased circulating IgA level	6	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	46
HP:0025354	HP:0003496	Increased circulating IgM level	6	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	46
HP:0025354	HP:0003212	Increased circulating IgE level	6	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0025354	HP:0004315	Decreased circulating IgG level	6	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0025354	HP:0002720	Decreased circulating IgA level	6	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0025354	HP:0003212	Increased circulating IgE level	6	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0025354	HP:0003237	Increased circulating IgG level	6	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0025354	HP:0004315	Decreased circulating IgG level	6	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0025354	HP:0002720	Decreased circulating IgA level	6	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0025354	HP:0002850	Decreased circulating total IgM	6	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0025354	HP:0004315	Decreased circulating IgG level	6	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0025354	HP:0004432	Agammaglobulinemia	6	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0025354	HP:0005479	Decreased circulating IgE	6	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0025354	HP:0002720	Decreased circulating IgA level	6	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040282 - Frequent	48
HP:0025354	HP:0003237	Increased circulating IgG level	6	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040284 - Very rare	48
HP:0025354	HP:0004315	Decreased circulating IgG level	6	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040282 - Frequent	48
HP:0025354	HP:0003212	Increased circulating IgE level	6	IL4R CL E G H	3566	6015	OMIM:147050	Ige responsiveness, atopic	.	3
HP:0025354	HP:0002850	Decreased circulating total IgM	6	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0025354	HP:0003212	Increased circulating IgE level	6	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0025354	HP:0004315	Decreased circulating IgG level	6	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0025354	HP:0002720	Decreased circulating IgA level	6	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0025354	HP:0002850	Decreased circulating total IgM	6	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0025354	HP:0003212	Increased circulating IgE level	6	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0025354	HP:0004315	Decreased circulating IgG level	6	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0025354	HP:0003212	Increased circulating IgE level	6	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0025354	HP:0003212	Increased circulating IgE level	6	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0025354	HP:0003237	Increased circulating IgG level	6	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0025354	HP:0003261	Increased circulating IgA level	6	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0025354	HP:0002720	Decreased circulating IgA level	6	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0025354	HP:0003212	Increased circulating IgE level	6	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0025354	HP:0003237	Increased circulating IgG level	6	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0025354	HP:0003212	Increased circulating IgE level	6	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0025354	HP:0002720	Decreased circulating IgA level	6	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0025354	HP:0002850	Decreased circulating total IgM	6	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0025354	HP:0004315	Decreased circulating IgG level	6	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0025354	HP:0003261	Increased circulating IgA level	6	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	4
HP:0025354	HP:0003496	Increased circulating IgM level	6	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	4
HP:0025354	HP:0008314	Decreased activity of mitochondrial complex II	6	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0025354	HP:0002720	Decreased circulating IgA level	6	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0025354	HP:0004315	Decreased circulating IgG level	6	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0025354	HP:0002720	Decreased circulating IgA level	6	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025354	HP:0002850	Decreased circulating total IgM	6	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025354	HP:0004315	Decreased circulating IgG level	6	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0025354	HP:0002720	Decreased circulating IgA level	6	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0025354	HP:0002850	Decreased circulating total IgM	6	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040283 - Occasional	140
HP:0025354	HP:0004315	Decreased circulating IgG level	6	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040283 - Occasional	140
HP:0025354	HP:0003496	Increased circulating IgM level	6	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin		1
HP:0025354	HP:0002720	Decreased circulating IgA level	6	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0025354	HP:0002850	Decreased circulating total IgM	6	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0025354	HP:0004315	Decreased circulating IgG level	6	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0025354	HP:0003212	Increased circulating IgE level	6	KRT1 CL E G H	3848	6412	OMIM:144200	Palmoplantar keratoderma, epidermolytic	.	100
HP:0025354	HP:0003212	Increased circulating IgE level	6	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0025354	HP:0003212	Increased circulating IgE level	6	KRT9 CL E G H	3857	6447	OMIM:144200	Palmoplantar keratoderma, epidermolytic	.	66
HP:0025354	HP:0002850	Decreased circulating total IgM	6	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein	.	1
HP:0025354	HP:0002720	Decreased circulating IgA level	6	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0002850	Decreased circulating total IgM	6	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0004315	Decreased circulating IgG level	6	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0025354	HP:0031047	Paraproteinemia	6	LIG4 CL E G H	3981	6601	OMIM:254500	Multiple myeloma	.	88
HP:0025354	HP:0002720	Decreased circulating IgA level	6	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0025354	HP:0002850	Decreased circulating total IgM	6	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0025354	HP:0004315	Decreased circulating IgG level	6	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040281 - Very frequent	191
HP:0025354	HP:0004432	Agammaglobulinemia	6	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant	.	3
HP:0025354	HP:0004432	Agammaglobulinemia	6	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	3
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0025354	HP:0031268	Decreased CD69 upregulation upon TCR activation	6	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0025354	HP:0008314	Decreased activity of mitochondrial complex II	6	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0025354	HP:0004315	Decreased circulating IgG level	6	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0025354	HP:0008314	Decreased activity of mitochondrial complex II	6	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0025354	HP:0003261	Increased circulating IgA level	6	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0025354	HP:0003496	Increased circulating IgM level	6	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0025354	HP:0002720	Decreased circulating IgA level	6	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0025354	HP:0002720	Decreased circulating IgA level	6	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040282 - Frequent	37
HP:0025354	HP:0002850	Decreased circulating total IgM	6	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040282 - Frequent	37
HP:0025354	HP:0004315	Decreased circulating IgG level	6	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0025354	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	6	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0025354	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	6	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0025354	HP:0004315	Decreased circulating IgG level	6	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1
HP:0025354	HP:0003212	Increased circulating IgE level	6	MS4A2 CL E G H	2206	7316	OMIM:147050	Ige responsiveness, atopic	.	1
HP:0025354	HP:0003496	Increased circulating IgM level	6	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0025354	HP:0002720	Decreased circulating IgA level	6	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040284 - Very rare	68
HP:0025354	HP:0002720	Decreased circulating IgA level	6	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0025354	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	6	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0025354	HP:0410246	Increased circulating IgD level	6	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0025354	HP:0003261	Increased circulating IgA level	6	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0025354	HP:0003261	Increased circulating IgA level	6	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040281 - Very frequent	150
HP:0025354	HP:0410246	Increased circulating IgD level	6	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0025354	HP:0003496	Increased circulating IgM level	6	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic		9
HP:0025354	HP:0031047	Paraproteinemia	6	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic		9
HP:0025354	HP:0003496	Increased circulating IgM level	6	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0025354	HP:0031047	Paraproteinemia	6	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0025354	HP:0002961	Dysgammaglobulinemia	6	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0025354	HP:0003212	Increased circulating IgE level	6	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0025354	HP:0003237	Increased circulating IgG level	6	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	7
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	32
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14		32
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	1
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26		27
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	40
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	26
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	31
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	50
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	34
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	3
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	9
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	16
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24		16
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	81
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	65
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	22
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	27
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	21
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	38
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	42
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	74
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	27
HP:0025354	HP:0002720	Decreased circulating IgA level	6	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0025354	HP:0002720	Decreased circulating IgA level	6	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0025354	HP:0002850	Decreased circulating total IgM	6	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0025354	HP:0004315	Decreased circulating IgG level	6	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0025354	HP:0008314	Decreased activity of mitochondrial complex II	6	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0025354	HP:0008314	Decreased activity of mitochondrial complex II	6	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0025354	HP:0004315	Decreased circulating IgG level	6	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0025354	HP:0003237	Increased circulating IgG level	6	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0025354	HP:0003261	Increased circulating IgA level	6	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0025354	HP:0003212	Increased circulating IgE level	6	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0003496	Increased circulating IgM level	6	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	89
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0025354	HP:0003261	Increased circulating IgA level	6	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0025354	HP:0003496	Increased circulating IgM level	6	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0025354	HP:0003212	Increased circulating IgE level	6	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0025354	HP:0003237	Increased circulating IgG level	6	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0025354	HP:0003496	Increased circulating IgM level	6	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0025354	HP:0003212	Increased circulating IgE level	6	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0025354	HP:0003237	Increased circulating IgG level	6	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0025354	HP:0003261	Increased circulating IgA level	6	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0025354	HP:0002720	Decreased circulating IgA level	6	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0025354	HP:0002850	Decreased circulating total IgM	6	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0025354	HP:0002720	Decreased circulating IgA level	6	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0025354	HP:0002850	Decreased circulating total IgM	6	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0025354	HP:0004315	Decreased circulating IgG level	6	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0025354	HP:0003496	Increased circulating IgM level	6	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0025354	HP:0004315	Decreased circulating IgG level	6	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0025354	HP:0002720	Decreased circulating IgA level	6	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0025354	HP:0002850	Decreased circulating total IgM	6	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0025354	HP:0004315	Decreased circulating IgG level	6	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0025354	HP:0002720	Decreased circulating IgA level	6	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0025354	HP:0002850	Decreased circulating total IgM	6	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0025354	HP:0004315	Decreased circulating IgG level	6	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0025354	HP:0004432	Agammaglobulinemia	6	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive	.	43
HP:0025354	HP:0004432	Agammaglobulinemia	6	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	43
HP:0025354	HP:0002720	Decreased circulating IgA level	6	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0025354	HP:0003496	Increased circulating IgM level	6	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0025354	HP:0004315	Decreased circulating IgG level	6	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0025354	HP:0003212	Increased circulating IgE level	6	PLA2G7 CL E G H	7941	9040	OMIM:147050	Ige responsiveness, atopic	.	5
HP:0025354	HP:0002720	Decreased circulating IgA level	6	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	.	21
HP:0025354	HP:0002850	Decreased circulating total IgM	6	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	.	21
HP:0025354	HP:0002720	Decreased circulating IgA level	6	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0025354	HP:0004315	Decreased circulating IgG level	6	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0025354	HP:0002850	Decreased circulating total IgM	6	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0025354	HP:0003237	Increased circulating IgG level	6	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0025354	HP:0003261	Increased circulating IgA level	6	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0025354	HP:0003261	Increased circulating IgA level	6	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0025354	HP:0003496	Increased circulating IgM level	6	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0025354	HP:0002720	Decreased circulating IgA level	6	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0025354	HP:0002850	Decreased circulating total IgM	6	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0025354	HP:0004315	Decreased circulating IgG level	6	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0025354	HP:0002850	Decreased circulating total IgM	6	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0025354	HP:0003212	Increased circulating IgE level	6	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0025354	HP:0003237	Increased circulating IgG level	6	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0025354	HP:0003261	Increased circulating IgA level	6	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0025354	HP:0004315	Decreased circulating IgG level	6	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0025354	HP:0003237	Increased circulating IgG level	6	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0025354	HP:0003261	Increased circulating IgA level	6	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0025354	HP:0002720	Decreased circulating IgA level	6	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0025354	HP:0002850	Decreased circulating total IgM	6	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0025354	HP:0004315	Decreased circulating IgG level	6	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0025354	HP:0004315	Decreased circulating IgG level	6	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0025354	HP:0002850	Decreased circulating total IgM	6	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0025354	HP:0004315	Decreased circulating IgG level	6	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0025354	HP:0004315	Decreased circulating IgG level	6	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	127
HP:0025354	HP:0002720	Decreased circulating IgA level	6	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	127
HP:0025354	HP:0002850	Decreased circulating total IgM	6	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	127
HP:0025354	HP:0004315	Decreased circulating IgG level	6	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	127
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	127
HP:0025354	HP:0004315	Decreased circulating IgG level	6	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	50
HP:0025354	HP:0002720	Decreased circulating IgA level	6	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	50
HP:0025354	HP:0002850	Decreased circulating total IgM	6	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	50
HP:0025354	HP:0004315	Decreased circulating IgG level	6	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	50
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	50
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0025354	HP:0002850	Decreased circulating total IgM	6	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0025354	HP:0003212	Increased circulating IgE level	6	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0025354	HP:0003237	Increased circulating IgG level	6	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0025354	HP:0003261	Increased circulating IgA level	6	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0025354	HP:0004315	Decreased circulating IgG level	6	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0025354	HP:0003237	Increased circulating IgG level	6	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0003261	Increased circulating IgA level	6	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0003496	Increased circulating IgM level	6	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0004315	Decreased circulating IgG level	6	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025354	HP:0002720	Decreased circulating IgA level	6	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0025354	HP:0004315	Decreased circulating IgG level	6	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0025354	HP:0004432	Agammaglobulinemia	6	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0025354	HP:0004432	Agammaglobulinemia	6	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0025354	HP:0004432	Agammaglobulinemia	6	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0025354	HP:0002720	Decreased circulating IgA level	6	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040281 - Very frequent	7
HP:0025354	HP:0002850	Decreased circulating total IgM	6	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0025354	HP:0004315	Decreased circulating IgG level	6	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040281 - Very frequent	7
HP:0025354	HP:0004315	Decreased circulating IgG level	6	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome		7
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0025354	HP:0002720	Decreased circulating IgA level	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0025354	HP:0002850	Decreased circulating total IgM	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0025354	HP:0004315	Decreased circulating IgG level	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0025354	HP:0008314	Decreased activity of mitochondrial complex II	6	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0025354	HP:0008314	Decreased activity of mitochondrial complex II	6	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.	304
HP:0025354	HP:0008314	Decreased activity of mitochondrial complex II	6	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0025354	HP:0008314	Decreased activity of mitochondrial complex II	6	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0025354	HP:0003496	Increased circulating IgM level	6	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0025354	HP:0002961	Dysgammaglobulinemia	6	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0025354	HP:0003496	Increased circulating IgM level	6	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	37
HP:0025354	HP:0004315	Decreased circulating IgG level	6	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	37
HP:0025354	HP:0004432	Agammaglobulinemia	6	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.	2
HP:0025354	HP:0002850	Decreased circulating total IgM	6	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0025354	HP:0004432	Agammaglobulinemia	6	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0025354	HP:0008314	Decreased activity of mitochondrial complex II	6	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional	11
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional	11
HP:0025354	HP:0004315	Decreased circulating IgG level	6	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0025354	HP:0004315	Decreased circulating IgG level	6	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0025354	HP:0004433	Secretory IgA deficiency	6	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040281 - Very frequent	49
HP:0025354	HP:0004315	Decreased circulating IgG level	6	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency	.	49
HP:0025354	HP:0002720	Decreased circulating IgA level	6	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0025354	HP:0002850	Decreased circulating total IgM	6	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0025354	HP:0004315	Decreased circulating IgG level	6	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0025354	HP:0004432	Agammaglobulinemia	6	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0025354	HP:0003261	Increased circulating IgA level	6	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0025354	HP:0003496	Increased circulating IgM level	6	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0025354	HP:0003212	Increased circulating IgE level	6	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0025354	HP:0003212	Increased circulating IgE level	6	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040281 - Very frequent	100
HP:0025354	HP:0004315	Decreased circulating IgG level	6	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0025354	HP:0003496	Increased circulating IgM level	6	SPPL2A CL E G H	84888	30227	OMIM:619549	IMMUNODEFICIENCY 86; IMD86
HP:0025354	HP:0004315	Decreased circulating IgG level	6	SPPL2A CL E G H	84888	30227	OMIM:619549	IMMUNODEFICIENCY 86; IMD86
HP:0025354	HP:0002720	Decreased circulating IgA level	6	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0025354	HP:0002850	Decreased circulating total IgM	6	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0025354	HP:0003212	Increased circulating IgE level	6	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040281 - Very frequent	110
HP:0025354	HP:0003212	Increased circulating IgE level	6	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0025354	HP:0003212	Increased circulating IgE level	6	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2		12
HP:0025354	HP:0003237	Increased circulating IgG level	6	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0025354	HP:0003261	Increased circulating IgA level	6	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent	60
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent	60
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent	60
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0025354	HP:0002720	Decreased circulating IgA level	6	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0025354	HP:0002850	Decreased circulating total IgM	6	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0025354	HP:0004315	Decreased circulating IgG level	6	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0025354	HP:0004432	Agammaglobulinemia	6	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0025354	HP:0002720	Decreased circulating IgA level	6	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0002850	Decreased circulating total IgM	6	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0004315	Decreased circulating IgG level	6	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0004432	Agammaglobulinemia	6	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0005479	Decreased circulating IgE	6	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0004432	Agammaglobulinemia	6	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	2
HP:0025354	HP:0003496	Increased circulating IgM level	6	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0025354	HP:0002720	Decreased circulating IgA level	6	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040282 - Frequent	57
HP:0025354	HP:0002850	Decreased circulating total IgM	6	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040282 - Frequent	57
HP:0025354	HP:0004315	Decreased circulating IgG level	6	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040282 - Frequent	57
HP:0025354	HP:0002720	Decreased circulating IgA level	6	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.	57
HP:0025354	HP:0002850	Decreased circulating total IgM	6	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.	57
HP:0025354	HP:0004315	Decreased circulating IgG level	6	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.	57
HP:0025354	HP:0003212	Increased circulating IgE level	6	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0003237	Increased circulating IgG level	6	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0025354	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	6	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent	1
HP:0025354	HP:0004432	Agammaglobulinemia	6	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional	15
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	1
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0025354	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	6	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0025354	HP:0004315	Decreased circulating IgG level	6	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	4
HP:0025354	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	6	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0025354	HP:0002720	Decreased circulating IgA level	6	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0025354	HP:0002850	Decreased circulating total IgM	6	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0025354	HP:0004315	Decreased circulating IgG level	6	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0025354	HP:0002720	Decreased circulating IgA level	6	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0004315	Decreased circulating IgG level	6	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0002720	Decreased circulating IgA level	6	TNFRSF13B CL E G H	23495	18153	OMIM:609529	Immunoglobulin A deficiency 2	.	32
HP:0025354	HP:0002720	Decreased circulating IgA level	6	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0025354	HP:0004315	Decreased circulating IgG level	6	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0025354	HP:0002850	Decreased circulating total IgM	6	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0025354	HP:0004315	Decreased circulating IgG level	6	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0025354	HP:0003261	Increased circulating IgA level	6	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0025354	HP:0003496	Increased circulating IgM level	6	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0025354	HP:0003261	Increased circulating IgA level	6	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	71
HP:0025354	HP:0003496	Increased circulating IgM level	6	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	71
HP:0025354	HP:0002720	Decreased circulating IgA level	6	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0025354	HP:0002850	Decreased circulating total IgM	6	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0025354	HP:0004315	Decreased circulating IgG level	6	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0025354	HP:0005479	Decreased circulating IgE	6	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0025354	HP:0004315	Decreased circulating IgG level	6	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0025354	HP:0003237	Increased circulating IgG level	6	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0025354	HP:0003496	Increased circulating IgM level	6	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0025354	HP:0004315	Decreased circulating IgG level	6	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent	101
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0025354	HP:0004432	Agammaglobulinemia	6	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent	1
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent	1
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0025354	HP:0003212	Increased circulating IgE level	6	TYK2 CL E G H	7297	12440	OMIM:611521	Immunodeficiency 35		77
HP:0025354	HP:0002720	Decreased circulating IgA level	6	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0025354	HP:0002850	Decreased circulating total IgM	6	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0025354	HP:0004315	Decreased circulating IgG level	6	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0025354	HP:0002720	Decreased circulating IgA level	6	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5	.	44
HP:0025354	HP:0003496	Increased circulating IgM level	6	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5	.	44
HP:0025354	HP:0004315	Decreased circulating IgG level	6	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5	.	44
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0025354	HP:0011924	Decreased activity of mitochondrial complex III	6	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0025354	HP:0008347	Decreased activity of mitochondrial complex IV	6	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0025354	HP:0011923	Decreased activity of mitochondrial complex I	6	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0025354	HP:0003496	Increased circulating IgM level	6	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0025354	HP:0004315	Decreased circulating IgG level	6	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0025354	HP:0003496	Increased circulating IgM level	6	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0025354	HP:0003212	Increased circulating IgE level	6	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1	.	65
HP:0025354	HP:0003261	Increased circulating IgA level	6	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1	.	65
HP:0025354	HP:0002850	Decreased circulating total IgM	6	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0025354	HP:0003212	Increased circulating IgE level	6	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0025354	HP:0003261	Increased circulating IgA level	6	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0025354	HP:0002961	Dysgammaglobulinemia	6	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0025354	HP:0003496	Increased circulating IgM level	6	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	81
HP:0025354	HP:0004315	Decreased circulating IgG level	6	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	81
HP:0025354	HP:0012475	Decreased circulating level of specific antibody	6	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0025354	HP:0003139	Panhypogammaglobulinemia	6	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT	.	46
HP:0025354	HP:0031048	Light-chain paraproteinemia	7	CL E G H
HP:0025354	HP:0031049	Heavy-chain paraproteinemia	7	CL E G H
HP:0025354	HP:0031050	Whole-immunoglobulin paraproteinemia	7	CL E G H
HP:0025354	HP:0032288	Polyclonal elevation of circulating IgG	7	CL E G H
HP:0025354	HP:0032289	Oligoclonal elevation of circulating IgG	7	CL E G H
HP:0025354	HP:0032290	Monoclonal elevation of IgG	7	CL E G H
HP:0025354	HP:0032332	Oligoclonal elevation of circulating IgM	7	CL E G H
HP:0025354	HP:0032333	Polyclonal elevation of circulating IgA	7	CL E G H
HP:0025354	HP:0032334	Oligoclonal elevation of circulating IgA	7	CL E G H
HP:0025354	HP:0032335	Monoclonal elevation of circulating IgA	7	CL E G H
HP:0025354	HP:0032337	Monoclonal elevation of circulating IgE	7	CL E G H
HP:0025354	HP:0032338	Oligoclonal elevation of circulating IgE	7	CL E G H
HP:0025354	HP:0032339	Polyclonal elevation of circulating IgE	7	CL E G H
HP:0025354	HP:0033016	Chronic decreased circulating IgD	7	CL E G H
HP:0025354	HP:0033017	Transient decreased circulating IgD	7	CL E G H
HP:0025354	HP:0033018	Chronic absent circulating IgD	7	CL E G H
HP:0025354	HP:0033021	Transient decreased circulating IgE	7	CL E G H
HP:0025354	HP:0033022	Chronic decreased circulating IgE	7	CL E G H
HP:0025354	HP:0033023	Chronic absent circulating IgE	7	CL E G H
HP:0025354	HP:0033024	Transient decreased circulating IgA	7	CL E G H
HP:0025354	HP:0033039	Increased circulating precipitin level	7	CL E G H
HP:0025354	HP:0410220	Increased anti-dairy protein IgE antibody level	7	CL E G H
HP:0025354	HP:0410222	Increased anti-seafood IgE antibody level	7	CL E G H
HP:0025354	HP:0410228	Increased anti-plant based food allergen IgE antibody level	7	CL E G H
HP:0025354	HP:0410229	Increased anti-gluten IgE antibody level	7	CL E G H
HP:0025354	HP:0410230	Increased anti-nut food product IgE antibody level	7	CL E G H
HP:0025354	HP:0410231	Increased anti-egg IgE antibody level	7	CL E G H
HP:0025354	HP:0410233	Increased anti-meat allergen IgE antibody level	7	CL E G H
HP:0025354	HP:0410236	Increased anti-venom IgE antibody level	7	CL E G H
HP:0025354	HP:0410247	Increased anti-animal dander IgE antibody level	7	CL E G H
HP:0025354	HP:0410248	Increased anti-house dust mite IgE antibody level	7	CL E G H
HP:0025354	HP:0410308	Decreased specific antibody response to infection	7	CL E G H
HP:0025354	HP:0005424	Absent specific antibody response	7	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0025354	HP:0032135	Decreased circulating IgG subclass level	7	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0025354	HP:0410292	Abnormal isohemagglutinin level	7	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0025354	HP:0032135	Decreased circulating IgG subclass level	7	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0025354	HP:0003460	Decreased circulating total IgA	7	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0025354	HP:0032132	Decreased circulating total IgG	7	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0025354	HP:0002848	Decreased specific anti-polysaccharide antibody level	7	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0025354	HP:0410292	Abnormal isohemagglutinin level	7	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0025354	HP:0032132	Decreased circulating total IgG	7	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0025354	HP:0032135	Decreased circulating IgG subclass level	7	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0003460	Decreased circulating total IgA	7	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	8
HP:0025354	HP:0003460	Decreased circulating total IgA	7	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	18
HP:0025354	HP:0003460	Decreased circulating total IgA	7	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	24
HP:0025354	HP:0032135	Decreased circulating IgG subclass level	7	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0025354	HP:0012476	Decreased specific pneumococcal antibody level	7	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0025354	HP:0032132	Decreased circulating total IgG	7	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0025354	HP:0002848	Decreased specific anti-polysaccharide antibody level	7	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0025354	HP:0410292	Abnormal isohemagglutinin level	7	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0012476	Decreased specific pneumococcal antibody level	7	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0032132	Decreased circulating total IgG	7	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0032135	Decreased circulating IgG subclass level	7	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0005424	Absent specific antibody response	7	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0025354	HP:0012476	Decreased specific pneumococcal antibody level	7	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0032135	Decreased circulating IgG subclass level	7	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0032135	Decreased circulating IgG subclass level	7	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome		40
HP:0025354	HP:0032135	Decreased circulating IgG subclass level	7	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0025354	HP:0002848	Decreased specific anti-polysaccharide antibody level	7	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0025354	HP:0002848	Decreased specific anti-polysaccharide antibody level	7	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0025354	HP:0003459	Polyclonal elevation of IgM	7	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0032135	Decreased circulating IgG subclass level	7	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0025354	HP:0032296	Increased circulating IgG subclass	7	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0025354	HP:0012476	Decreased specific pneumococcal antibody level	7	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0025354	HP:0012476	Decreased specific pneumococcal antibody level	7	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0025354	HP:0002848	Decreased specific anti-polysaccharide antibody level	7	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0025354	HP:0003460	Decreased circulating total IgA	7	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025354	HP:0032132	Decreased circulating total IgG	7	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025354	HP:0011837	Partial IgA deficiency	7	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040283 - Occasional	140
HP:0025354	HP:0003459	Polyclonal elevation of IgM	7	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin	.	1
HP:0025354	HP:0003460	Decreased circulating total IgA	7	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0025354	HP:0032132	Decreased circulating total IgG	7	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0025354	HP:0002848	Decreased specific anti-polysaccharide antibody level	7	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0025354	HP:0032132	Decreased circulating total IgG	7	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1
HP:0025354	HP:0003459	Polyclonal elevation of IgM	7	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0025354	HP:0003459	Polyclonal elevation of IgM	7	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic	.	9
HP:0025354	HP:0005508	Monoclonal immunoglobulin M proteinemia	7	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic	.	9
HP:0025354	HP:0005508	Monoclonal immunoglobulin M proteinemia	7	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040281 - Very frequent	9
HP:0025354	HP:0003460	Decreased circulating total IgA	7	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0025354	HP:0032132	Decreased circulating total IgG	7	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0025354	HP:0012476	Decreased specific pneumococcal antibody level	7	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0025354	HP:0032135	Decreased circulating IgG subclass level	7	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0025354	HP:0002848	Decreased specific anti-polysaccharide antibody level	7	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0025354	HP:0410292	Abnormal isohemagglutinin level	7	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0025354	HP:0002848	Decreased specific anti-polysaccharide antibody level	7	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0025354	HP:0003459	Polyclonal elevation of IgM	7	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0025354	HP:0410292	Abnormal isohemagglutinin level	7	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040281 - Very frequent	71
HP:0025354	HP:0003460	Decreased circulating total IgA	7	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0025354	HP:0032132	Decreased circulating total IgG	7	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0003459	Polyclonal elevation of IgM	7	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0025354	HP:0032140	Decreased specific antibody response to vaccination	7	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0025354	HP:0002848	Decreased specific anti-polysaccharide antibody level	7	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0025354	HP:0012476	Decreased specific pneumococcal antibody level	7	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0025354	HP:0020194	IgA heavy chain paraproteinemia	8	CL E G H
HP:0025354	HP:0020195	IgG heavy chain paraproteinemia	8	CL E G H
HP:0025354	HP:0020196	IgM heavy chain paraproteinemia	8	CL E G H
HP:0025354	HP:0032133	Transient decreased circulating total IgG	8	CL E G H
HP:0025354	HP:0032291	Monoclonal elevation of intact IgG	8	CL E G H
HP:0025354	HP:0032292	Monoclonal elevation of IgG light chain	8	CL E G H
HP:0025354	HP:0032293	Monoclonal elevation of IgG heavy chain	8	CL E G H
HP:0025354	HP:0032298	Increased circulating IgG1 level	8	CL E G H
HP:0025354	HP:0032299	Increased circulating IgG2 level	8	CL E G H
HP:0025354	HP:0032300	Increased circulating IgG4 level	8	CL E G H
HP:0025354	HP:0033025	Chronic absent circulating total IgG	8	CL E G H
HP:0025354	HP:0008348	Decreased circulating IgG2 level	8	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0025354	HP:0410294	Decreased specific antibody response to protein vaccine	8	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0025354	HP:0410294	Decreased specific antibody response to protein vaccine	8	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0025354	HP:0410302	Decreased specific antibody response to protein-conjugated polysaccharide vaccine	8	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0025354	HP:0410294	Decreased specific antibody response to protein vaccine	8	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0025354	HP:0032139	Reduced isohemagglutinin level	8	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0025354	HP:0008348	Decreased circulating IgG2 level	8	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0025354	HP:0032134	Chronic decreased circulating total IgG	8	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0025354	HP:0410299	Decreased specific antibody response to polysaccharide vaccine	8	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0025354	HP:0410302	Decreased specific antibody response to protein-conjugated polysaccharide vaccine	8	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0410299	Decreased specific antibody response to polysaccharide vaccine	8	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0025354	HP:0410299	Decreased specific antibody response to polysaccharide vaccine	8	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0410299	Decreased specific antibody response to polysaccharide vaccine	8	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0025354	HP:0032134	Chronic decreased circulating total IgG	8	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0025354	HP:0032139	Reduced isohemagglutinin level	8	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0025354	HP:0410294	Decreased specific antibody response to protein vaccine	8	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0008348	Decreased circulating IgG2 level	8	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0008348	Decreased circulating IgG2 level	8	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0025354	HP:0410294	Decreased specific antibody response to protein vaccine	8	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0025354	HP:0410294	Decreased specific antibody response to protein vaccine	8	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0025354	HP:0032134	Chronic decreased circulating total IgG	8	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0025354	HP:0410299	Decreased specific antibody response to polysaccharide vaccine	8	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0025354	HP:0032136	Decreased circulating IgG1 level	8	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0032138	Decreased circulating IgG4 level	8	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0032139	Reduced isohemagglutinin level	8	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0410294	Decreased specific antibody response to protein vaccine	8	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0008348	Decreased circulating IgG2 level	8	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0008348	Decreased circulating IgG2 level	8	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040283 - Occasional	40
HP:0025354	HP:0008348	Decreased circulating IgG2 level	8	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0025354	HP:0410299	Decreased specific antibody response to polysaccharide vaccine	8	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0025354	HP:0410299	Decreased specific antibody response to polysaccharide vaccine	8	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0032137	Decreased circulating IgG3 level	8	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0025354	HP:0032297	Increased circulating IgG3 level	8	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0025354	HP:0410299	Decreased specific antibody response to polysaccharide vaccine	8	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0025354	HP:0032134	Chronic decreased circulating total IgG	8	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1
HP:0025354	HP:0008348	Decreased circulating IgG2 level	8	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0025354	HP:0410293	Absent isohemagglutinin level	8	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0025354	HP:0410302	Decreased specific antibody response to protein-conjugated polysaccharide vaccine	8	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0025354	HP:0410294	Decreased specific antibody response to protein vaccine	8	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0025354	HP:0410294	Decreased specific antibody response to protein vaccine	8	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0025354	HP:0410299	Decreased specific antibody response to polysaccharide vaccine	8	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0025354	HP:0410294	Decreased specific antibody response to protein vaccine	8	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0410299	Decreased specific antibody response to polysaccharide vaccine	8	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0410299	Decreased specific antibody response to polysaccharide vaccine	8	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0025354	HP:0410299	Decreased specific antibody response to polysaccharide vaccine	8	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0025354	HP:0032294	Monoclonal elevation of IgG kappa chain	9	CL E G H
HP:0025354	HP:0032295	Monoclonal elevation of IgG lambda chain	9	CL E G H
HP:0025354	HP:0041057	Transient decreased circulating IgG4	9	CL E G H
HP:0025354	HP:0041062	Transient decreased circulating IgG2	9	CL E G H
HP:0025354	HP:0041067	Transient decreased circulating IgG1	9	CL E G H
HP:0025354	HP:0041071	Transient decreased circulating IgG3	9	CL E G H
HP:0025354	HP:0041072	Chronic decreased circulating IgG3	9	CL E G H
HP:0025354	HP:0410296	Complete or near-complete absence of specific antibody response to hepatitis B vaccine	9	CL E G H
HP:0025354	HP:0410298	Partial absence of specific antibody response to hepatitis B vaccine	9	CL E G H
HP:0025354	HP:0410304	Complete or near-complete absence of specific antibody response to meningococcus vaccine	9	CL E G H
HP:0025354	HP:0410306	Partial absence of specific antibody response to meningococcus vaccine	9	CL E G H
HP:0025354	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	9	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0025354	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	9	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0025354	HP:0410305	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	9	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0025354	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	9	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0025354	HP:0410303	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	9	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0025354	HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	9	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0025354	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	9	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0025354	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	9	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0025354	HP:0041063	Chronic decreased cirulating IgG2	9	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0025354	HP:0410297	Partial absence of specific antibody response to tetanus vaccine	9	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0025354	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	9	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0025354	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	9	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0025354	HP:0041058	Chronic decreased circulating IgG4	9	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0041068	Chronic decreased circulating IgG1	9	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0410297	Partial absence of specific antibody response to tetanus vaccine	9	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0025354	HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	9	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0025354	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	9	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	9	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0025354	HP:0410305	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	9	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0025354	HP:0410297	Partial absence of specific antibody response to tetanus vaccine	9	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0025354	HP:0410297	Partial absence of specific antibody response to tetanus vaccine	9	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0025354	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	9	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0025354	HP:0410297	Partial absence of specific antibody response to tetanus vaccine	9	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0025354	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	9	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0025354	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	9	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0025354	HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	9	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0025354	HP:0041060	Chronic partially decreased circulating IgG4	10	CL E G H
HP:0025354	HP:0041065	Chronic (near) absent circulating IgG2	10	CL E G H
HP:0025354	HP:0041066	Chronic partially decreased circulating IgG2	10	CL E G H
HP:0025354	HP:0041069	Chronic (near) absent circulating IgG1	10	CL E G H
HP:0025354	HP:0041074	Chronic (near) absent circulating IgG3	10	CL E G H
HP:0025354	HP:0041075	Chronic partially decreased circulating IgG3	10	CL E G H
HP:0025354	HP:0041059	Chronic (near) absent circulating IgG4	10	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0025354	HP:0041070	Chronic partially decreased circulating IgG1	10	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10