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:0012116	HP:0012116	Abnormal circulating albumin concentration	0	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1		27
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		27
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia		104
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG		58
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		6
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		3
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		4
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		3
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8		3
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		105
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		161
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome		54
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		35
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	COQ8B CL E G H	79934	19041	OMIM:615573	Nephrotic syndrome, type 9		35
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		12
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type		9
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		4
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	FN1 CL E G H	2335	3778	ORPHA:84090	Fibronectin glomerulopathy		9
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		135
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital		6
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		59
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	MAGI2 CL E G H	9863	18957	OMIM:617609	Nephrotic syndrome, type 15		59
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG		51
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	MYO1E CL E G H	4643	7599	OMIM:614131	Focal segmental glomerulosclerosis 6		3
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		3
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		241
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1		241
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		69
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2		69
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		5
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11		5
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8		1
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		1
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		1
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		5
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		39
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome		54
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		11
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		118
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3		118
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		2
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	PTPRO CL E G H	5800	9678	OMIM:614196	Nephrotic syndrome, type 6		2
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		162
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II		82
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		1
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1		52
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1		52
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)		1
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		107
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		177
HP:0012116	HP:0012116	Abnormal circulating albumin concentration	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0012116	HP:0012117	Hyperalbuminemia	1	CL E G H
HP:0012116	HP:0003073	Hypoalbuminemia	1	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1	.	27
HP:0012116	HP:0003073	Hypoalbuminemia	1	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	27
HP:0012116	HP:0003073	Hypoalbuminemia	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040281 - Very frequent	31
HP:0012116	HP:0003073	Hypoalbuminemia	1	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0012116	HP:0003073	Hypoalbuminemia	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040281 - Very frequent	104
HP:0012116	HP:0003073	Hypoalbuminemia	1	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040282 - Frequent	58
HP:0012116	HP:0003073	Hypoalbuminemia	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0012116	HP:0003073	Hypoalbuminemia	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0012116	HP:0003073	Hypoalbuminemia	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0012116	HP:0003073	Hypoalbuminemia	1	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012116	HP:0003073	Hypoalbuminemia	1	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	6
HP:0012116	HP:0003073	Hypoalbuminemia	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0012116	HP:0003073	Hypoalbuminemia	1	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	3
HP:0012116	HP:0003073	Hypoalbuminemia	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0012116	HP:0003073	Hypoalbuminemia	1	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	4
HP:0012116	HP:0003073	Hypoalbuminemia	1	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	3
HP:0012116	HP:0003073	Hypoalbuminemia	1	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.	3
HP:0012116	HP:0003073	Hypoalbuminemia	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0012116	HP:0003073	Hypoalbuminemia	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43	.	8
HP:0012116	HP:0003073	Hypoalbuminemia	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	385
HP:0012116	HP:0003073	Hypoalbuminemia	1	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome	.	385
HP:0012116	HP:0003073	Hypoalbuminemia	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0012116	HP:0003073	Hypoalbuminemia	1	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	105
HP:0012116	HP:0003073	Hypoalbuminemia	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0012116	HP:0003073	Hypoalbuminemia	1	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	161
HP:0012116	HP:0003073	Hypoalbuminemia	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent	263
HP:0012116	HP:0003073	Hypoalbuminemia	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040281 - Very frequent	54
HP:0012116	HP:0003073	Hypoalbuminemia	1	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	35
HP:0012116	HP:0003073	Hypoalbuminemia	1	COQ8B CL E G H	79934	19041	OMIM:615573	Nephrotic syndrome, type 9	.	35
HP:0012116	HP:0003073	Hypoalbuminemia	1	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	12
HP:0012116	HP:0003073	Hypoalbuminemia	1	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012116	HP:0003073	Hypoalbuminemia	1	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type	.	9
HP:0012116	HP:0003073	Hypoalbuminemia	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.	57
HP:0012116	HP:0003073	Hypoalbuminemia	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0012116	HP:0003073	Hypoalbuminemia	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040282 - Frequent	65
HP:0012116	HP:0003073	Hypoalbuminemia	1	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	4
HP:0012116	HP:0003073	Hypoalbuminemia	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0012116	HP:0003073	Hypoalbuminemia	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0012116	HP:0003073	Hypoalbuminemia	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012116	HP:0003073	Hypoalbuminemia	1	FN1 CL E G H	2335	3778	ORPHA:84090	Fibronectin glomerulopathy	HP:0040281 - Very frequent	9
HP:0012116	HP:0003073	Hypoalbuminemia	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0012116	HP:0003073	Hypoalbuminemia	1	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012116	HP:0003073	Hypoalbuminemia	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0012116	HP:0003073	Hypoalbuminemia	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0012116	HP:0003073	Hypoalbuminemia	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0012116	HP:0003073	Hypoalbuminemia	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	46
HP:0012116	HP:0003073	Hypoalbuminemia	1	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	135
HP:0012116	HP:0003073	Hypoalbuminemia	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	4
HP:0012116	HP:0003073	Hypoalbuminemia	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0012116	HP:0003073	Hypoalbuminemia	1	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.	6
HP:0012116	HP:0003073	Hypoalbuminemia	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional	110
HP:0012116	HP:0003073	Hypoalbuminemia	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional	173
HP:0012116	HP:0003073	Hypoalbuminemia	1	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	59
HP:0012116	HP:0003073	Hypoalbuminemia	1	MAGI2 CL E G H	9863	18957	OMIM:617609	Nephrotic syndrome, type 15	.	59
HP:0012116	HP:0003073	Hypoalbuminemia	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012116	HP:0003073	Hypoalbuminemia	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0012116	HP:0003073	Hypoalbuminemia	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0012116	HP:0003073	Hypoalbuminemia	1	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040281 - Very frequent	51
HP:0012116	HP:0003073	Hypoalbuminemia	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0012116	HP:0003073	Hypoalbuminemia	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0012116	HP:0003073	Hypoalbuminemia	1	MYO1E CL E G H	4643	7599	OMIM:614131	Focal segmental glomerulosclerosis 6	.	3
HP:0012116	HP:0003073	Hypoalbuminemia	1	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	3
HP:0012116	HP:0003073	Hypoalbuminemia	1	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0012116	HP:0003073	Hypoalbuminemia	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0012116	HP:0003073	Hypoalbuminemia	1	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	241
HP:0012116	HP:0003073	Hypoalbuminemia	1	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.	241
HP:0012116	HP:0003073	Hypoalbuminemia	1	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	69
HP:0012116	HP:0003073	Hypoalbuminemia	1	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2	.	69
HP:0012116	HP:0003073	Hypoalbuminemia	1	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	5
HP:0012116	HP:0003073	Hypoalbuminemia	1	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11		5
HP:0012116	HP:0003073	Hypoalbuminemia	1	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8	.	1
HP:0012116	HP:0003073	Hypoalbuminemia	1	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	1
HP:0012116	HP:0003073	Hypoalbuminemia	1	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012116	HP:0003073	Hypoalbuminemia	1	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	1
HP:0012116	HP:0003073	Hypoalbuminemia	1	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012116	HP:0003073	Hypoalbuminemia	1	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012116	HP:0003073	Hypoalbuminemia	1	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	5
HP:0012116	HP:0003073	Hypoalbuminemia	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0012116	HP:0003073	Hypoalbuminemia	1	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	39
HP:0012116	HP:0003073	Hypoalbuminemia	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040281 - Very frequent	54
HP:0012116	HP:0003073	Hypoalbuminemia	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0012116	HP:0003073	Hypoalbuminemia	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	11
HP:0012116	HP:0003073	Hypoalbuminemia	1	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	118
HP:0012116	HP:0003073	Hypoalbuminemia	1	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3	.	118
HP:0012116	HP:0003073	Hypoalbuminemia	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0012116	HP:0003073	Hypoalbuminemia	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0012116	HP:0003073	Hypoalbuminemia	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0012116	HP:0003073	Hypoalbuminemia	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0012116	HP:0003073	Hypoalbuminemia	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	58
HP:0012116	HP:0003073	Hypoalbuminemia	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	.	58
HP:0012116	HP:0003073	Hypoalbuminemia	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	948
HP:0012116	HP:0003073	Hypoalbuminemia	1	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	2
HP:0012116	HP:0003073	Hypoalbuminemia	1	PTPRO CL E G H	5800	9678	OMIM:614196	Nephrotic syndrome, type 6	.	2
HP:0012116	HP:0003073	Hypoalbuminemia	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012116	HP:0003073	Hypoalbuminemia	1	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease	.	8
HP:0012116	HP:0003073	Hypoalbuminemia	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0012116	HP:0003073	Hypoalbuminemia	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	162
HP:0012116	HP:0003073	Hypoalbuminemia	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.	8
HP:0012116	HP:0003073	Hypoalbuminemia	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0012116	HP:0003073	Hypoalbuminemia	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0012116	HP:0003073	Hypoalbuminemia	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0012116	HP:0003073	Hypoalbuminemia	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0012116	HP:0003073	Hypoalbuminemia	1	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0012116	HP:0003073	Hypoalbuminemia	1	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome	.	504
HP:0012116	HP:0003073	Hypoalbuminemia	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0012116	HP:0003073	Hypoalbuminemia	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	85
HP:0012116	HP:0003073	Hypoalbuminemia	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	70
HP:0012116	HP:0003073	Hypoalbuminemia	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0012116	HP:0003073	Hypoalbuminemia	1	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	1
HP:0012116	HP:0003073	Hypoalbuminemia	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0012116	HP:0003073	Hypoalbuminemia	1	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent	52
HP:0012116	HP:0003073	Hypoalbuminemia	1	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	.	52
HP:0012116	HP:0003073	Hypoalbuminemia	1	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.	1
HP:0012116	HP:0003073	Hypoalbuminemia	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0012116	HP:0003073	Hypoalbuminemia	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0012116	HP:0003073	Hypoalbuminemia	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	71
HP:0012116	HP:0003073	Hypoalbuminemia	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0012116	HP:0003073	Hypoalbuminemia	1	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	107
HP:0012116	HP:0003073	Hypoalbuminemia	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012116	HP:0003073	Hypoalbuminemia	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	116
HP:0012116	HP:0003073	Hypoalbuminemia	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent	1
HP:0012116	HP:0003073	Hypoalbuminemia	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0012116	HP:0003073	Hypoalbuminemia	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	HP:0040284 - Very rare
HP:0012116	HP:0003073	Hypoalbuminemia	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0012116	HP:0003073	Hypoalbuminemia	1	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	177
HP:0012116	HP:0003073	Hypoalbuminemia	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81