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:0012378	HP:0012378	Fatigue	0	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040283 - Occasional	119
HP:0012378	HP:0012378	Fatigue	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0012378	HP:0012378	Fatigue	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0012378	HP:0012378	Fatigue	0	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	51
HP:0012378	HP:0012378	Fatigue	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0012378	HP:0012378	Fatigue	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	96
HP:0012378	HP:0012378	Fatigue	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	208
HP:0012378	HP:0012378	Fatigue	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.	82
HP:0012378	HP:0012378	Fatigue	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0012378	HP:0012378	Fatigue	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	95
HP:0012378	HP:0012378	Fatigue	0	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia	HP:0040281 - Very frequent	72
HP:0012378	HP:0012378	Fatigue	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0012378	HP:0012378	Fatigue	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040282 - Frequent	104
HP:0012378	HP:0012378	Fatigue	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2		74
HP:0012378	HP:0012378	Fatigue	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	32
HP:0012378	HP:0012378	Fatigue	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0012378	HP:0012378	Fatigue	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	HP:0040283 - Occasional	6
HP:0012378	HP:0012378	Fatigue	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2	.	7
HP:0012378	HP:0012378	Fatigue	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0012378	HP:0012378	Fatigue	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0012378	HP:0012378	Fatigue	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0012378	HP:0012378	Fatigue	0	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent	3267
HP:0012378	HP:0012378	Fatigue	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040283 - Occasional	100
HP:0012378	HP:0012378	Fatigue	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent	100
HP:0012378	HP:0012378	Fatigue	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0012378	HP:0012378	Fatigue	0	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive	.
HP:0012378	HP:0012378	Fatigue	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent	192
HP:0012378	HP:0012378	Fatigue	0	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome	HP:0040281 - Very frequent	169
HP:0012378	HP:0012378	Fatigue	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0012378	HP:0012378	Fatigue	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	18
HP:0012378	HP:0012378	Fatigue	0	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma	HP:0040282 - Frequent	1
HP:0012378	HP:0012378	Fatigue	0	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma	HP:0040282 - Frequent	1
HP:0012378	HP:0012378	Fatigue	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0012378	HP:0012378	Fatigue	0	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	5
HP:0012378	HP:0012378	Fatigue	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent
HP:0012378	HP:0012378	Fatigue	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	4
HP:0012378	HP:0012378	Fatigue	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent
HP:0012378	HP:0012378	Fatigue	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	385
HP:0012378	HP:0012378	Fatigue	0	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma	HP:0040282 - Frequent	5769
HP:0012378	HP:0012378	Fatigue	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma		5769
HP:0012378	HP:0012378	Fatigue	0	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma	HP:0040282 - Frequent	7642
HP:0012378	HP:0012378	Fatigue	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma		7642
HP:0012378	HP:0012378	Fatigue	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent	109
HP:0012378	HP:0012378	Fatigue	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	1
HP:0012378	HP:0012378	Fatigue	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0012378	HP:0012378	Fatigue	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	1
HP:0012378	HP:0012378	Fatigue	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	56
HP:0012378	HP:0012378	Fatigue	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent	1
HP:0012378	HP:0012378	Fatigue	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0012378	HP:0012378	Fatigue	0	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum		148
HP:0012378	HP:0012378	Fatigue	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0012378	HP:0012378	Fatigue	0	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent	1
HP:0012378	HP:0012378	Fatigue	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040282 - Frequent	1
HP:0012378	HP:0012378	Fatigue	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0012378	HP:0012378	Fatigue	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0012378	HP:0012378	Fatigue	0	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0012378	HP:0012378	Fatigue	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	39
HP:0012378	HP:0012378	Fatigue	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	9
HP:0012378	HP:0012378	Fatigue	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	6
HP:0012378	HP:0012378	Fatigue	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040282 - Frequent	169
HP:0012378	HP:0012378	Fatigue	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent	169
HP:0012378	HP:0012378	Fatigue	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	636
HP:0012378	HP:0012378	Fatigue	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0012378	HP:0012378	Fatigue	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma		289
HP:0012378	HP:0012378	Fatigue	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0012378	HP:0012378	Fatigue	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	86
HP:0012378	HP:0012378	Fatigue	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	57
HP:0012378	HP:0012378	Fatigue	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0012378	HP:0012378	Fatigue	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	42
HP:0012378	HP:0012378	Fatigue	0	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA		118
HP:0012378	HP:0012378	Fatigue	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	5
HP:0012378	HP:0012378	Fatigue	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040282 - Frequent	5
HP:0012378	HP:0012378	Fatigue	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	373
HP:0012378	HP:0012378	Fatigue	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0012378	HP:0012378	Fatigue	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	660
HP:0012378	HP:0012378	Fatigue	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	325
HP:0012378	HP:0012378	Fatigue	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0012378	HP:0012378	Fatigue	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.	54
HP:0012378	HP:0012378	Fatigue	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040281 - Very frequent	99
HP:0012378	HP:0012378	Fatigue	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	10
HP:0012378	HP:0012378	Fatigue	0	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent	88
HP:0012378	HP:0012378	Fatigue	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0012378	HP:0012378	Fatigue	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040282 - Frequent	80
HP:0012378	HP:0012378	Fatigue	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	86
HP:0012378	HP:0012378	Fatigue	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	30
HP:0012378	HP:0012378	Fatigue	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0012378	HP:0012378	Fatigue	0	DMD CL E G H	1756	2928	ORPHA:98895	Becker muscular dystrophy	HP:0040282 - Frequent	1496
HP:0012378	HP:0012378	Fatigue	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	6
HP:0012378	HP:0012378	Fatigue	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	94
HP:0012378	HP:0012378	Fatigue	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0012378	HP:0012378	Fatigue	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B	.	600
HP:0012378	HP:0012378	Fatigue	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0012378	HP:0012378	Fatigue	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040282 - Frequent	79
HP:0012378	HP:0012378	Fatigue	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0012378	HP:0012378	Fatigue	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	170
HP:0012378	HP:0012378	Fatigue	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0012378	HP:0012378	Fatigue	0	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040281 - Very frequent	43
HP:0012378	HP:0012378	Fatigue	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	1
HP:0012378	HP:0012378	Fatigue	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	15
HP:0012378	HP:0012378	Fatigue	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	106
HP:0012378	HP:0012378	Fatigue	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	54
HP:0012378	HP:0012378	Fatigue	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	158
HP:0012378	HP:0012378	Fatigue	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	83
HP:0012378	HP:0012378	Fatigue	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	15
HP:0012378	HP:0012378	Fatigue	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	59
HP:0012378	HP:0012378	Fatigue	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040282 - Frequent	51
HP:0012378	HP:0012378	Fatigue	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	172
HP:0012378	HP:0012378	Fatigue	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0012378	HP:0012378	Fatigue	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	111
HP:0012378	HP:0012378	Fatigue	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0012378	HP:0012378	Fatigue	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0012378	HP:0012378	Fatigue	0	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	9
HP:0012378	HP:0012378	Fatigue	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	184
HP:0012378	HP:0012378	Fatigue	0	FTL CL E G H	2512	3999	ORPHA:254704	Genetic hyperferritinemia without iron overload	HP:0040283 - Occasional	33
HP:0012378	HP:0012378	Fatigue	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0012378	HP:0012378	Fatigue	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent	137
HP:0012378	HP:0012378	Fatigue	0	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome	HP:0040282 - Frequent	137
HP:0012378	HP:0012378	Fatigue	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	87
HP:0012378	HP:0012378	Fatigue	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	37
HP:0012378	HP:0012378	Fatigue	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040281 - Very frequent
HP:0012378	HP:0012378	Fatigue	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	86
HP:0012378	HP:0012378	Fatigue	0	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency	HP:0040282 - Frequent	237
HP:0012378	HP:0012378	Fatigue	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0012378	HP:0012378	Fatigue	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0012378	HP:0012378	Fatigue	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0012378	HP:0012378	Fatigue	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	45
HP:0012378	HP:0012378	Fatigue	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0012378	HP:0012378	Fatigue	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0012378	HP:0012378	Fatigue	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0012378	HP:0012378	Fatigue	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0012378	HP:0012378	Fatigue	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0012378	HP:0012378	Fatigue	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0012378	HP:0012378	Fatigue	0	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040282 - Frequent
HP:0012378	HP:0012378	Fatigue	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040281 - Very frequent	200
HP:0012378	HP:0012378	Fatigue	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040281 - Very frequent	88
HP:0012378	HP:0012378	Fatigue	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent
HP:0012378	HP:0012378	Fatigue	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0012378	HP:0012378	Fatigue	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0012378	HP:0012378	Fatigue	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0012378	HP:0012378	Fatigue	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	21
HP:0012378	HP:0012378	Fatigue	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent	38
HP:0012378	HP:0012378	Fatigue	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	4
HP:0012378	HP:0012378	Fatigue	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	4
HP:0012378	HP:0012378	Fatigue	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent	4
HP:0012378	HP:0012378	Fatigue	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	4
HP:0012378	HP:0012378	Fatigue	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0012378	HP:0012378	Fatigue	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent	1
HP:0012378	HP:0012378	Fatigue	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	1
HP:0012378	HP:0012378	Fatigue	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040284 - Very rare	2
HP:0012378	HP:0012378	Fatigue	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma	HP:0040282 - Frequent	2
HP:0012378	HP:0012378	Fatigue	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	2
HP:0012378	HP:0012378	Fatigue	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	2
HP:0012378	HP:0012378	Fatigue	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional	35
HP:0012378	HP:0012378	Fatigue	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent	138
HP:0012378	HP:0012378	Fatigue	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0012378	HP:0012378	Fatigue	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	60
HP:0012378	HP:0012378	Fatigue	0	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma	HP:0040282 - Frequent	7
HP:0012378	HP:0012378	Fatigue	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	7
HP:0012378	HP:0012378	Fatigue	0	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent	7
HP:0012378	HP:0012378	Fatigue	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0012378	HP:0012378	Fatigue	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	7
HP:0012378	HP:0012378	Fatigue	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0012378	HP:0012378	Fatigue	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	3
HP:0012378	HP:0012378	Fatigue	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent	8
HP:0012378	HP:0012378	Fatigue	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	2
HP:0012378	HP:0012378	Fatigue	0	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0012378	HP:0012378	Fatigue	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0012378	HP:0012378	Fatigue	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0012378	HP:0012378	Fatigue	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0012378	HP:0012378	Fatigue	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	31
HP:0012378	HP:0012378	Fatigue	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	46
HP:0012378	HP:0012378	Fatigue	0	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0012378	HP:0012378	Fatigue	0	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0012378	HP:0012378	Fatigue	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	1
HP:0012378	HP:0012378	Fatigue	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	1
HP:0012378	HP:0012378	Fatigue	0	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency	HP:0040282 - Frequent	229
HP:0012378	HP:0012378	Fatigue	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0012378	HP:0012378	Fatigue	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent	1
HP:0012378	HP:0012378	Fatigue	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	4
HP:0012378	HP:0012378	Fatigue	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	127
HP:0012378	HP:0012378	Fatigue	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0012378	HP:0012378	Fatigue	0	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.	57
HP:0012378	HP:0012378	Fatigue	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent	57
HP:0012378	HP:0012378	Fatigue	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent	57
HP:0012378	HP:0012378	Fatigue	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0012378	HP:0012378	Fatigue	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0012378	HP:0012378	Fatigue	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent	1
HP:0012378	HP:0012378	Fatigue	0	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	327
HP:0012378	HP:0012378	Fatigue	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0012378	HP:0012378	Fatigue	0	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0012378	HP:0012378	Fatigue	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0012378	HP:0012378	Fatigue	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040283 - Occasional
HP:0012378	HP:0012378	Fatigue	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma		196
HP:0012378	HP:0012378	Fatigue	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	196
HP:0012378	HP:0012378	Fatigue	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040281 - Very frequent	70
HP:0012378	HP:0012378	Fatigue	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0012378	HP:0012378	Fatigue	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0012378	HP:0012378	Fatigue	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0012378	HP:0012378	Fatigue	0	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0012378	HP:0012378	Fatigue	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	3
HP:0012378	HP:0012378	Fatigue	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	6
HP:0012378	HP:0012378	Fatigue	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0012378	HP:0012378	Fatigue	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	80
HP:0012378	HP:0012378	Fatigue	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0012378	HP:0012378	Fatigue	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency		94
HP:0012378	HP:0012378	Fatigue	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0012378	HP:0012378	Fatigue	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0012378	HP:0012378	Fatigue	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	281
HP:0012378	HP:0012378	Fatigue	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040283 - Occasional	462
HP:0012378	HP:0012378	Fatigue	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	462
HP:0012378	HP:0012378	Fatigue	0	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent	375
HP:0012378	HP:0012378	Fatigue	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1819
HP:0012378	HP:0012378	Fatigue	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	131
HP:0012378	HP:0012378	Fatigue	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent
HP:0012378	HP:0012378	Fatigue	0	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD	HP:0040281 - Very frequent	50
HP:0012378	HP:0012378	Fatigue	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0012378	HP:0012378	Fatigue	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent	8
HP:0012378	HP:0012378	Fatigue	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent	97
HP:0012378	HP:0012378	Fatigue	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent	97
HP:0012378	HP:0012378	Fatigue	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency		26
HP:0012378	HP:0012378	Fatigue	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2162
HP:0012378	HP:0012378	Fatigue	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2232
HP:0012378	HP:0012378	Fatigue	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0012378	HP:0012378	Fatigue	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0012378	HP:0012378	Fatigue	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	452
HP:0012378	HP:0012378	Fatigue	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040281 - Very frequent	1269
HP:0012378	HP:0012378	Fatigue	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	131
HP:0012378	HP:0012378	Fatigue	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040283 - Occasional
HP:0012378	HP:0012378	Fatigue	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0012378	HP:0012378	Fatigue	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional	36
HP:0012378	HP:0012378	Fatigue	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0012378	HP:0012378	Fatigue	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	24
HP:0012378	HP:0012378	Fatigue	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	101
HP:0012378	HP:0012378	Fatigue	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0012378	HP:0012378	Fatigue	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0012378	HP:0012378	Fatigue	0	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA		1
HP:0012378	HP:0012378	Fatigue	0	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	51
HP:0012378	HP:0012378	Fatigue	0	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	90
HP:0012378	HP:0012378	Fatigue	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	90
HP:0012378	HP:0012378	Fatigue	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0012378	HP:0012378	Fatigue	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent	217
HP:0012378	HP:0012378	Fatigue	0	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0012378	HP:0012378	Fatigue	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040281 - Very frequent	217
HP:0012378	HP:0012378	Fatigue	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0012378	HP:0012378	Fatigue	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency		13
HP:0012378	HP:0012378	Fatigue	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0012378	HP:0012378	Fatigue	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	13
HP:0012378	HP:0012378	Fatigue	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040281 - Very frequent	79
HP:0012378	HP:0012378	Fatigue	0	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized	.	79
HP:0012378	HP:0012378	Fatigue	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	27
HP:0012378	HP:0012378	Fatigue	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0012378	HP:0012378	Fatigue	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040282 - Frequent	214
HP:0012378	HP:0012378	Fatigue	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	214
HP:0012378	HP:0012378	Fatigue	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0012378	HP:0012378	Fatigue	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0012378	HP:0012378	Fatigue	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	41
HP:0012378	HP:0012378	Fatigue	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	3
HP:0012378	HP:0012378	Fatigue	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma		1349
HP:0012378	HP:0012378	Fatigue	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma		192
HP:0012378	HP:0012378	Fatigue	0	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	63
HP:0012378	HP:0012378	Fatigue	0	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent	63
HP:0012378	HP:0012378	Fatigue	0	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	337
HP:0012378	HP:0012378	Fatigue	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0012378	HP:0012378	Fatigue	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It	HP:0040283 - Occasional	58
HP:0012378	HP:0012378	Fatigue	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0012378	HP:0012378	Fatigue	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	54
HP:0012378	HP:0012378	Fatigue	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0012378	HP:0012378	Fatigue	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0012378	HP:0012378	Fatigue	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	48
HP:0012378	HP:0012378	Fatigue	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0012378	HP:0012378	Fatigue	0	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2	.	12
HP:0012378	HP:0012378	Fatigue	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	162
HP:0012378	HP:0012378	Fatigue	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0012378	HP:0012378	Fatigue	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	43
HP:0012378	HP:0012378	Fatigue	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040283 - Occasional	759
HP:0012378	HP:0012378	Fatigue	0	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3		2
HP:0012378	HP:0012378	Fatigue	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0012378	HP:0012378	Fatigue	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	56
HP:0012378	HP:0012378	Fatigue	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1121
HP:0012378	HP:0012378	Fatigue	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.	3
HP:0012378	HP:0012378	Fatigue	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	6
HP:0012378	HP:0012378	Fatigue	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0012378	HP:0012378	Fatigue	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0012378	HP:0012378	Fatigue	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0012378	HP:0012378	Fatigue	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	.	180
HP:0012378	HP:0012378	Fatigue	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0012378	HP:0012378	Fatigue	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	2
HP:0012378	HP:0012378	Fatigue	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0012378	HP:0012378	Fatigue	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0012378	HP:0012378	Fatigue	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0012378	HP:0012378	Fatigue	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0012378	HP:0012378	Fatigue	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0012378	HP:0012378	Fatigue	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35		10
HP:0012378	HP:0012378	Fatigue	0	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040282 - Frequent	7
HP:0012378	HP:0012378	Fatigue	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0012378	HP:0012378	Fatigue	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	34
HP:0012378	HP:0012378	Fatigue	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0012378	HP:0012378	Fatigue	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0012378	HP:0012378	Fatigue	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0012378	HP:0012378	Fatigue	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	25
HP:0012378	HP:0012378	Fatigue	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0012378	HP:0012378	Fatigue	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0012378	HP:0012378	Fatigue	0	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	HP:0040281 - Very frequent	96
HP:0012378	HP:0012378	Fatigue	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	3
HP:0012378	HP:0012378	Fatigue	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	3
HP:0012378	HP:0012378	Fatigue	0	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0012378	HP:0012378	Fatigue	0	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma	HP:0040282 - Frequent	1
HP:0012378	HP:0012378	Fatigue	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040283 - Occasional	166
HP:0012378	HP:0012378	Fatigue	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0012378	HP:0012378	Fatigue	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent
HP:0012378	HP:0012378	Fatigue	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency		73
HP:0012378	HP:0012378	Fatigue	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0012378	HP:0012378	Fatigue	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0012378	HP:0012378	Fatigue	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0012378	HP:0012378	Fatigue	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0012378	HP:0012378	Fatigue	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	1
HP:0012378	HP:0012378	Fatigue	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0012378	HP:0012378	Fatigue	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		125
HP:0012378	HP:0012378	Fatigue	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0012378	HP:0012378	Fatigue	0	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	181
HP:0012378	HP:0012378	Fatigue	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040282 - Frequent	1200
HP:0012378	HP:0012378	Fatigue	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040283 - Occasional	263
HP:0012378	HP:0012378	Fatigue	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	1134
HP:0012378	HP:0012378	Fatigue	0	SCNN1A CL E G H	6337	10599	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent	67
HP:0012378	HP:0012378	Fatigue	0	SCNN1B CL E G H	6338	10600	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent	61
HP:0012378	HP:0012378	Fatigue	0	SCNN1G CL E G H	6340	10602	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent	57
HP:0012378	HP:0012378	Fatigue	0	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	304
HP:0012378	HP:0012378	Fatigue	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0012378	HP:0012378	Fatigue	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0012378	HP:0012378	Fatigue	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0012378	HP:0012378	Fatigue	0	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	237
HP:0012378	HP:0012378	Fatigue	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0012378	HP:0012378	Fatigue	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0012378	HP:0012378	Fatigue	0	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	147
HP:0012378	HP:0012378	Fatigue	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0012378	HP:0012378	Fatigue	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0012378	HP:0012378	Fatigue	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0012378	HP:0012378	Fatigue	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	144
HP:0012378	HP:0012378	Fatigue	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	48
HP:0012378	HP:0012378	Fatigue	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0012378	HP:0012378	Fatigue	0	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency	.	4
HP:0012378	HP:0012378	Fatigue	0	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.	4
HP:0012378	HP:0012378	Fatigue	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0012378	HP:0012378	Fatigue	0	SLC11A1 CL E G H	6556	10907	ORPHA:3389	Tuberculosis	HP:0040282 - Frequent	2
HP:0012378	HP:0012378	Fatigue	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0012378	HP:0012378	Fatigue	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent	2
HP:0012378	HP:0012378	Fatigue	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2		2
HP:0012378	HP:0012378	Fatigue	0	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.	2
HP:0012378	HP:0012378	Fatigue	0	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0012378	HP:0012378	Fatigue	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0012378	HP:0012378	Fatigue	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0012378	HP:0012378	Fatigue	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0012378	HP:0012378	Fatigue	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0012378	HP:0012378	Fatigue	0	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	274
HP:0012378	HP:0012378	Fatigue	0	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent	274
HP:0012378	HP:0012378	Fatigue	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0012378	HP:0012378	Fatigue	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040282 - Frequent	7
HP:0012378	HP:0012378	Fatigue	0	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040282 - Frequent	55
HP:0012378	HP:0012378	Fatigue	0	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4		56
HP:0012378	HP:0012378	Fatigue	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0012378	HP:0012378	Fatigue	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0012378	HP:0012378	Fatigue	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0012378	HP:0012378	Fatigue	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0012378	HP:0012378	Fatigue	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma		504
HP:0012378	HP:0012378	Fatigue	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	53
HP:0012378	HP:0012378	Fatigue	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	33
HP:0012378	HP:0012378	Fatigue	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0012378	HP:0012378	Fatigue	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	24
HP:0012378	HP:0012378	Fatigue	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0012378	HP:0012378	Fatigue	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012378	HP:0012378	Fatigue	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0012378	HP:0012378	Fatigue	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0012378	HP:0012378	Fatigue	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0012378	HP:0012378	Fatigue	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency		45
HP:0012378	HP:0012378	Fatigue	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0012378	HP:0012378	Fatigue	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0012378	HP:0012378	Fatigue	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	2
HP:0012378	HP:0012378	Fatigue	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0012378	HP:0012378	Fatigue	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040283 - Occasional	1
HP:0012378	HP:0012378	Fatigue	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040282 - Frequent	1
HP:0012378	HP:0012378	Fatigue	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	9
HP:0012378	HP:0012378	Fatigue	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0012378	HP:0012378	Fatigue	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0012378	HP:0012378	Fatigue	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	65
HP:0012378	HP:0012378	Fatigue	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0012378	HP:0012378	Fatigue	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	20
HP:0012378	HP:0012378	Fatigue	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0012378	HP:0012378	Fatigue	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040281 - Very frequent	57
HP:0012378	HP:0012378	Fatigue	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	20
HP:0012378	HP:0012378	Fatigue	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	2
HP:0012378	HP:0012378	Fatigue	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0012378	HP:0012378	Fatigue	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0012378	HP:0012378	Fatigue	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent	3
HP:0012378	HP:0012378	Fatigue	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent	3
HP:0012378	HP:0012378	Fatigue	0	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia	HP:0040282 - Frequent	3
HP:0012378	HP:0012378	Fatigue	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0012378	HP:0012378	Fatigue	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.	67
HP:0012378	HP:0012378	Fatigue	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	253
HP:0012378	HP:0012378	Fatigue	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive		161
HP:0012378	HP:0012378	Fatigue	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	6
HP:0012378	HP:0012378	Fatigue	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form		103
HP:0012378	HP:0012378	Fatigue	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6
HP:0012378	HP:0012378	Fatigue	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	6
HP:0012378	HP:0012378	Fatigue	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	3
HP:0012378	HP:0012378	Fatigue	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	3
HP:0012378	HP:0012378	Fatigue	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0012378	HP:0012378	Fatigue	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0012378	HP:0012378	Fatigue	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	71
HP:0012378	HP:0012378	Fatigue	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040282 - Frequent	134
HP:0012378	HP:0012378	Fatigue	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma		911
HP:0012378	HP:0012378	Fatigue	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	54
HP:0012378	HP:0012378	Fatigue	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	108
HP:0012378	HP:0012378	Fatigue	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	2
HP:0012378	HP:0012378	Fatigue	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0012378	HP:0012378	Fatigue	0	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7		2
HP:0012378	HP:0012378	Fatigue	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2
HP:0012378	HP:0012378	Fatigue	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0012378	HP:0012378	Fatigue	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040283 - Occasional
HP:0012378	HP:0012378	Fatigue	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	1090
HP:0012378	HP:0012378	Fatigue	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	2738
HP:0012378	HP:0012378	Fatigue	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0012378	HP:0012378	Fatigue	0	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	97
HP:0012378	HP:0012378	Fatigue	0	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent	97
HP:0012378	HP:0012378	Fatigue	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0012378	HP:0012378	Fatigue	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	113
HP:0012378	HP:0012378	Fatigue	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency		85
HP:0012378	HP:0012378	Fatigue	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0012378	HP:0012378	Fatigue	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0012378	HP:0012378	Fatigue	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0012378	HP:0012378	Fatigue	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0012378	HP:0012378	Fatigue	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0012378	HP:0012378	Fatigue	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	5
HP:0012378	HP:0012378	Fatigue	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	116
HP:0012378	HP:0012378	Fatigue	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	63
HP:0012378	HP:0012378	Fatigue	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2	.	490
HP:0012378	HP:0012378	Fatigue	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0012378	HP:0012378	Fatigue	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490
HP:0012378	HP:0012378	Fatigue	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	65
HP:0012378	HP:0012378	Fatigue	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	6
HP:0012378	HP:0012378	Fatigue	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	34
HP:0012378	HP:0012378	Fatigue	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	86
HP:0012378	HP:0012378	Fatigue	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040283 - Occasional	7
HP:0012378	HP:0012378	Fatigue	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0012378	HP:0033236	Cognitive fatigue	1	CL E G H
HP:0012378	HP:0012432	Chronic fatigue	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040282 - Frequent	74
HP:0012378	HP:0012432	Chronic fatigue	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	5769
HP:0012378	HP:0012432	Chronic fatigue	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	7642
HP:0012378	HP:0012432	Chronic fatigue	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	289
HP:0012378	HP:0012432	Chronic fatigue	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0012378	HP:0012432	Chronic fatigue	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0012378	HP:0012431	Episodic fatigue	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	3
HP:0012378	HP:0012432	Chronic fatigue	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	196
HP:0012378	HP:0012432	Chronic fatigue	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	94
HP:0012378	HP:0012432	Chronic fatigue	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0012378	HP:0012432	Chronic fatigue	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	26
HP:0012378	HP:0012432	Chronic fatigue	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0012378	HP:0012432	Chronic fatigue	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	13
HP:0012378	HP:0012432	Chronic fatigue	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	1349
HP:0012378	HP:0012432	Chronic fatigue	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	192
HP:0012378	HP:0012431	Episodic fatigue	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	36
HP:0012378	HP:0012432	Chronic fatigue	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0012378	HP:0012432	Chronic fatigue	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent
HP:0012378	HP:0012431	Episodic fatigue	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	109
HP:0012378	HP:0012432	Chronic fatigue	1	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0012378	HP:0012432	Chronic fatigue	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0012378	HP:0012432	Chronic fatigue	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0012378	HP:0012432	Chronic fatigue	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	504
HP:0012378	HP:0012432	Chronic fatigue	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	45
HP:0012378	HP:0012432	Chronic fatigue	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent	103
HP:0012378	HP:0012432	Chronic fatigue	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	911
HP:0012378	HP:0012432	Chronic fatigue	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	85