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:0000093	HP:0000093	Proteinuria	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0000093	HP:0000093	Proteinuria	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	19
HP:0000093	HP:0000093	Proteinuria	0	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1	.	27
HP:0000093	HP:0000093	Proteinuria	0	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	27
HP:0000093	HP:0000093	Proteinuria	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.	129
HP:0000093	HP:0000093	Proteinuria	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	2
HP:0000093	HP:0000093	Proteinuria	0	AMN CL E G H	81693	14604	OMIM:618882	IMERSLUND-GRASBECK SYNDROME 2; IGS2		25
HP:0000093	HP:0000093	Proteinuria	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040282 - Frequent	25
HP:0000093	HP:0000093	Proteinuria	0	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate
HP:0000093	HP:0000093	Proteinuria	0	ANLN CL E G H	54443	14082	OMIM:616032	Focal segmental glomerulosclerosis 8	.	6
HP:0000093	HP:0000093	Proteinuria	0	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	6
HP:0000093	HP:0000093	Proteinuria	0	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral		40
HP:0000093	HP:0000093	Proteinuria	0	APOE CL E G H	348	613	OMIM:611771	LIPOPROTEIN GLOMERULOPATHY; LPG		39
HP:0000093	HP:0000093	Proteinuria	0	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	3
HP:0000093	HP:0000093	Proteinuria	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040282 - Frequent	19
HP:0000093	HP:0000093	Proteinuria	0	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	4
HP:0000093	HP:0000093	Proteinuria	0	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	3
HP:0000093	HP:0000093	Proteinuria	0	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.	3
HP:0000093	HP:0000093	Proteinuria	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0000093	HP:0000093	Proteinuria	0	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral		8
HP:0000093	HP:0000093	Proteinuria	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5	.	92
HP:0000093	HP:0000093	Proteinuria	0	CD2AP CL E G H	23607	14258	OMIM:607832	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3		105
HP:0000093	HP:0000093	Proteinuria	0	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	105
HP:0000093	HP:0000093	Proteinuria	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	39
HP:0000093	HP:0000093	Proteinuria	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2	.	39
HP:0000093	HP:0000093	Proteinuria	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0000093	HP:0000093	Proteinuria	0	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4	.	30
HP:0000093	HP:0000093	Proteinuria	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	86
HP:0000093	HP:0000093	Proteinuria	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	57
HP:0000093	HP:0000093	Proteinuria	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3	.	57
HP:0000093	HP:0000093	Proteinuria	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1		112
HP:0000093	HP:0000093	Proteinuria	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive		112
HP:0000093	HP:0000093	Proteinuria	0	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I		112
HP:0000093	HP:0000093	Proteinuria	0	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis		112
HP:0000093	HP:0000093	Proteinuria	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	27
HP:0000093	HP:0000093	Proteinuria	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.	161
HP:0000093	HP:0000093	Proteinuria	0	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive	.	161
HP:0000093	HP:0000093	Proteinuria	0	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	161
HP:0000093	HP:0000093	Proteinuria	0	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive	.	174
HP:0000093	HP:0000093	Proteinuria	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.	678
HP:0000093	HP:0000093	Proteinuria	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent	678
HP:0000093	HP:0000093	Proteinuria	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent	18
HP:0000093	HP:0000093	Proteinuria	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0000093	HP:0000093	Proteinuria	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome		54
HP:0000093	HP:0000093	Proteinuria	0	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6	.	39
HP:0000093	HP:0000093	Proteinuria	0	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	35
HP:0000093	HP:0000093	Proteinuria	0	COQ8B CL E G H	79934	19041	OMIM:615573	Nephrotic syndrome, type 9	.	35
HP:0000093	HP:0000093	Proteinuria	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040281 - Very frequent	5
HP:0000093	HP:0000093	Proteinuria	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000093	HP:0000093	Proteinuria	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000093	HP:0000093	Proteinuria	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000093	HP:0000093	Proteinuria	0	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	12
HP:0000093	HP:0000093	Proteinuria	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	10
HP:0000093	HP:0000093	Proteinuria	0	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type	.	178
HP:0000093	HP:0000093	Proteinuria	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0000093	HP:0000093	Proteinuria	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis		178
HP:0000093	HP:0000093	Proteinuria	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040282 - Frequent	178
HP:0000093	HP:0000093	Proteinuria	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040282 - Frequent	273
HP:0000093	HP:0000093	Proteinuria	0	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1		273
HP:0000093	HP:0000093	Proteinuria	0	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate
HP:0000093	HP:0000093	Proteinuria	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG		62
HP:0000093	HP:0000093	Proteinuria	0	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7	.	17
HP:0000093	HP:0000093	Proteinuria	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040282 - Frequent	3
HP:0000093	HP:0000093	Proteinuria	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0000093	HP:0000093	Proteinuria	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0000093	HP:0000093	Proteinuria	0	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3	.	2
HP:0000093	HP:0000093	Proteinuria	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0000093	HP:0000093	Proteinuria	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0000093	HP:0000093	Proteinuria	0	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	4
HP:0000093	HP:0000093	Proteinuria	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0000093	HP:0000093	Proteinuria	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	158
HP:0000093	HP:0000093	Proteinuria	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0000093	HP:0000093	Proteinuria	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	199
HP:0000093	HP:0000093	Proteinuria	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0000093	HP:0000093	Proteinuria	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0000093	HP:0000093	Proteinuria	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	55
HP:0000093	HP:0000093	Proteinuria	0	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic	.	15
HP:0000093	HP:0000093	Proteinuria	0	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral		47
HP:0000093	HP:0000093	Proteinuria	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0000093	HP:0000093	Proteinuria	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040281 - Very frequent	11
HP:0000093	HP:0000093	Proteinuria	0	FN1 CL E G H	2335	3778	ORPHA:84090	Fibronectin glomerulopathy	HP:0040281 - Very frequent	9
HP:0000093	HP:0000093	Proteinuria	0	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2	.	9
HP:0000093	HP:0000093	Proteinuria	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040283 - Occasional	20
HP:0000093	HP:0000093	Proteinuria	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0000093	HP:0000093	Proteinuria	0	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate
HP:0000093	HP:0000093	Proteinuria	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0000093	HP:0000093	Proteinuria	0	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1	.	86
HP:0000093	HP:0000093	Proteinuria	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0000093	HP:0000093	Proteinuria	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0000093	HP:0000093	Proteinuria	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040283 - Occasional
HP:0000093	HP:0000093	Proteinuria	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0000093	HP:0000093	Proteinuria	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent	291
HP:0000093	HP:0000093	Proteinuria	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional	53
HP:0000093	HP:0000093	Proteinuria	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000093	HP:0000093	Proteinuria	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000093	HP:0000093	Proteinuria	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000093	HP:0000093	Proteinuria	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	1
HP:0000093	HP:0000093	Proteinuria	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0000093	HP:0000093	Proteinuria	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0000093	HP:0000093	Proteinuria	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	.	138
HP:0000093	HP:0000093	Proteinuria	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent	138
HP:0000093	HP:0000093	Proteinuria	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0000093	HP:0000093	Proteinuria	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.	135
HP:0000093	HP:0000093	Proteinuria	0	INF2 CL E G H	64423	23791	OMIM:613237	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5		135
HP:0000093	HP:0000093	Proteinuria	0	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	135
HP:0000093	HP:0000093	Proteinuria	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.	6
HP:0000093	HP:0000093	Proteinuria	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.	4
HP:0000093	HP:0000093	Proteinuria	0	KANK2 CL E G H	25959	29300	OMIM:617783	Nephrotic syndrome, type 16	.	1
HP:0000093	HP:0000093	Proteinuria	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000093	HP:0000093	Proteinuria	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	5
HP:0000093	HP:0000093	Proteinuria	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0000093	HP:0000093	Proteinuria	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.	202
HP:0000093	HP:0000093	Proteinuria	0	KIRREL1 CL E G H	55243	15734	OMIM:619201	NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0000093	HP:0000093	Proteinuria	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000093	HP:0000093	Proteinuria	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0000093	HP:0000093	Proteinuria	0	LAMB2 CL E G H	3913	6487	OMIM:614199	Nephrotic syndrome, type 5, with or without ocular abnormalities		92
HP:0000093	HP:0000093	Proteinuria	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.	92
HP:0000093	HP:0000093	Proteinuria	0	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency	.	26
HP:0000093	HP:0000093	Proteinuria	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040283 - Occasional	11
HP:0000093	HP:0000093	Proteinuria	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11
HP:0000093	HP:0000093	Proteinuria	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0000093	HP:0000093	Proteinuria	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0000093	HP:0000093	Proteinuria	0	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE		165
HP:0000093	HP:0000093	Proteinuria	0	LMX1B CL E G H	4010	6654	ORPHA:2613	Nail-patella-like renal disease	HP:0040281 - Very frequent	165
HP:0000093	HP:0000093	Proteinuria	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040283 - Occasional	186
HP:0000093	HP:0000093	Proteinuria	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000093	HP:0000093	Proteinuria	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent	289
HP:0000093	HP:0000093	Proteinuria	0	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral		32
HP:0000093	HP:0000093	Proteinuria	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0000093	HP:0000093	Proteinuria	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040281 - Very frequent	63
HP:0000093	HP:0000093	Proteinuria	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.	63
HP:0000093	HP:0000093	Proteinuria	0	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	59
HP:0000093	HP:0000093	Proteinuria	0	MAGI2 CL E G H	9863	18957	OMIM:617609	Nephrotic syndrome, type 15	.	59
HP:0000093	HP:0000093	Proteinuria	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0000093	HP:0000093	Proteinuria	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.	84
HP:0000093	HP:0000093	Proteinuria	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0000093	HP:0000093	Proteinuria	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040282 - Frequent	281
HP:0000093	HP:0000093	Proteinuria	0	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT		281
HP:0000093	HP:0000093	Proteinuria	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000093	HP:0000093	Proteinuria	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000093	HP:0000093	Proteinuria	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0000093	HP:0000093	Proteinuria	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000093	HP:0000093	Proteinuria	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040282 - Frequent	297
HP:0000093	HP:0000093	Proteinuria	0	MYO1E CL E G H	4643	7599	OMIM:614131	Focal segmental glomerulosclerosis 6	.	3
HP:0000093	HP:0000093	Proteinuria	0	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	3
HP:0000093	HP:0000093	Proteinuria	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0000093	HP:0000093	Proteinuria	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000093	HP:0000093	Proteinuria	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000093	HP:0000093	Proteinuria	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000093	HP:0000093	Proteinuria	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000093	HP:0000093	Proteinuria	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0000093	HP:0000093	Proteinuria	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0000093	HP:0000093	Proteinuria	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0000093	HP:0000093	Proteinuria	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0000093	HP:0000093	Proteinuria	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	HP:0040283 - Occasional	494
HP:0000093	HP:0000093	Proteinuria	0	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22		4
HP:0000093	HP:0000093	Proteinuria	0	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1	.	8
HP:0000093	HP:0000093	Proteinuria	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.	138
HP:0000093	HP:0000093	Proteinuria	0	NPHS1 CL E G H	4868	7908	ORPHA:839	Congenital nephrotic syndrome, Finnish type	HP:0040281 - Very frequent	241
HP:0000093	HP:0000093	Proteinuria	0	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	241
HP:0000093	HP:0000093	Proteinuria	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.	241
HP:0000093	HP:0000093	Proteinuria	0	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	69
HP:0000093	HP:0000093	Proteinuria	0	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2	.	69
HP:0000093	HP:0000093	Proteinuria	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent	5
HP:0000093	HP:0000093	Proteinuria	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0000093	HP:0000093	Proteinuria	0	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	5
HP:0000093	HP:0000093	Proteinuria	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11		5
HP:0000093	HP:0000093	Proteinuria	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent	1
HP:0000093	HP:0000093	Proteinuria	0	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8	.	1
HP:0000093	HP:0000093	Proteinuria	0	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	1
HP:0000093	HP:0000093	Proteinuria	0	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18		1
HP:0000093	HP:0000093	Proteinuria	0	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate
HP:0000093	HP:0000093	Proteinuria	0	NUP160 CL E G H	23279	18017	OMIM:618178	Nephrotic syndrome, type 19	.
HP:0000093	HP:0000093	Proteinuria	0	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	1
HP:0000093	HP:0000093	Proteinuria	0	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate
HP:0000093	HP:0000093	Proteinuria	0	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate
HP:0000093	HP:0000093	Proteinuria	0	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17	.
HP:0000093	HP:0000093	Proteinuria	0	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	5
HP:0000093	HP:0000093	Proteinuria	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0000093	HP:0000093	Proteinuria	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0000093	HP:0000093	Proteinuria	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent	88
HP:0000093	HP:0000093	Proteinuria	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0000093	HP:0000093	Proteinuria	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0000093	HP:0000093	Proteinuria	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000093	HP:0000093	Proteinuria	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0000093	HP:0000093	Proteinuria	0	PAX2 CL E G H	5076	8616	OMIM:616002	Focal segmental glomerulosclerosis 7	.	39
HP:0000093	HP:0000093	Proteinuria	0	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	39
HP:0000093	HP:0000093	Proteinuria	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0000093	HP:0000093	Proteinuria	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0000093	HP:0000093	Proteinuria	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0000093	HP:0000093	Proteinuria	0	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3	.	54
HP:0000093	HP:0000093	Proteinuria	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome		54
HP:0000093	HP:0000093	Proteinuria	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0000093	HP:0000093	Proteinuria	0	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	118
HP:0000093	HP:0000093	Proteinuria	0	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3	.	118
HP:0000093	HP:0000093	Proteinuria	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0000093	HP:0000093	Proteinuria	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0000093	HP:0000093	Proteinuria	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000093	HP:0000093	Proteinuria	0	PRODH CL E G H	5625	9453	ORPHA:419	Hyperprolinemia type 1	HP:0040282 - Frequent	13
HP:0000093	HP:0000093	Proteinuria	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	HP:0040283 - Occasional	96
HP:0000093	HP:0000093	Proteinuria	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	3
HP:0000093	HP:0000093	Proteinuria	0	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	2
HP:0000093	HP:0000093	Proteinuria	0	PTPRO CL E G H	5800	9678	OMIM:614196	Nephrotic syndrome, type 6	.	2
HP:0000093	HP:0000093	Proteinuria	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040282 - Frequent	1
HP:0000093	HP:0000093	Proteinuria	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040284 - Very rare	71
HP:0000093	HP:0000093	Proteinuria	0	REN CL E G H	5972	9958	OMIM:613092	Hyperuricemic nephropathy, familial juvenile, 2		25
HP:0000093	HP:0000093	Proteinuria	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0000093	HP:0000093	Proteinuria	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA	.	572
HP:0000093	HP:0000093	Proteinuria	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0000093	HP:0000093	Proteinuria	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000093	HP:0000093	Proteinuria	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040281 - Very frequent	2
HP:0000093	HP:0000093	Proteinuria	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0000093	HP:0000093	Proteinuria	0	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure	.	77
HP:0000093	HP:0000093	Proteinuria	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional	77
HP:0000093	HP:0000093	Proteinuria	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0000093	HP:0000093	Proteinuria	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0000093	HP:0000093	Proteinuria	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0000093	HP:0000093	Proteinuria	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA	.	237
HP:0000093	HP:0000093	Proteinuria	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0000093	HP:0000093	Proteinuria	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0000093	HP:0000093	Proteinuria	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0000093	HP:0000093	Proteinuria	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA	.	129
HP:0000093	HP:0000093	Proteinuria	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0000093	HP:0000093	Proteinuria	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.	8
HP:0000093	HP:0000093	Proteinuria	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	145
HP:0000093	HP:0000093	Proteinuria	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia		56
HP:0000093	HP:0000093	Proteinuria	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0000093	HP:0000093	Proteinuria	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia		57
HP:0000093	HP:0000093	Proteinuria	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0000093	HP:0000093	Proteinuria	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.	24
HP:0000093	HP:0000093	Proteinuria	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0000093	HP:0000093	Proteinuria	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0000093	HP:0000093	Proteinuria	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0000093	HP:0000093	Proteinuria	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0000093	HP:0000093	Proteinuria	0	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia	.	4
HP:0000093	HP:0000093	Proteinuria	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent	146
HP:0000093	HP:0000093	Proteinuria	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0000093	HP:0000093	Proteinuria	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040281 - Very frequent	74
HP:0000093	HP:0000093	Proteinuria	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040283 - Occasional	94
HP:0000093	HP:0000093	Proteinuria	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	SPRY2 CL E G H	10253	11270	OMIM:616818	Iga nephropathy, susceptibility to, 3		1
HP:0000093	HP:0000093	Proteinuria	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0000093	HP:0000093	Proteinuria	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent	2
HP:0000093	HP:0000093	Proteinuria	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040281 - Very frequent	2
HP:0000093	HP:0000093	Proteinuria	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0000093	HP:0000093	Proteinuria	0	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	1
HP:0000093	HP:0000093	Proteinuria	0	TBC1D8B CL E G H	54885	24715	OMIM:301028	Nephrotic syndrome, type 20	.	1
HP:0000093	HP:0000093	Proteinuria	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6	.	60
HP:0000093	HP:0000093	Proteinuria	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0000093	HP:0000093	Proteinuria	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA	.	131
HP:0000093	HP:0000093	Proteinuria	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000093	HP:0000093	Proteinuria	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0000093	HP:0000093	Proteinuria	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000093	HP:0000093	Proteinuria	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5	.
HP:0000093	HP:0000093	Proteinuria	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040282 - Frequent	56
HP:0000093	HP:0000093	Proteinuria	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0000093	HP:0000093	Proteinuria	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0000093	HP:0000093	Proteinuria	0	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000093	HP:0000093	Proteinuria	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000093	HP:0000093	Proteinuria	0	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000093	HP:0000093	Proteinuria	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0000093	HP:0000093	Proteinuria	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000093	HP:0000093	Proteinuria	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000093	HP:0000093	Proteinuria	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0000093	HP:0000093	Proteinuria	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000093	HP:0000093	Proteinuria	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000093	HP:0000093	Proteinuria	0	TRPC6 CL E G H	7225	12338	OMIM:603965	Focal segmental glomerulosclerosis 2	.	107
HP:0000093	HP:0000093	Proteinuria	0	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	107
HP:0000093	HP:0000093	Proteinuria	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000093	HP:0000093	Proteinuria	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0000093	HP:0000093	Proteinuria	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA	.	490
HP:0000093	HP:0000093	Proteinuria	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490
HP:0000093	HP:0000093	Proteinuria	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0000093	HP:0000093	Proteinuria	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040281 - Very frequent	1
HP:0000093	HP:0000093	Proteinuria	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0000093	HP:0000093	Proteinuria	0	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0000093	HP:0000093	Proteinuria	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000093	HP:0000093	Proteinuria	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000093	HP:0000093	Proteinuria	0	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13		95
HP:0000093	HP:0000093	Proteinuria	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95
HP:0000093	HP:0000093	Proteinuria	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000093	HP:0000093	Proteinuria	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	HP:0040284 - Very rare
HP:0000093	HP:0000093	Proteinuria	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent	14
HP:0000093	HP:0000093	Proteinuria	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0000093	HP:0000093	Proteinuria	0	WT1 CL E G H	7490	12796	ORPHA:220	Denys-Drash syndrome	HP:0040281 - Very frequent	177
HP:0000093	HP:0000093	Proteinuria	0	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome		177
HP:0000093	HP:0000093	Proteinuria	0	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome	HP:0040281 - Very frequent	177
HP:0000093	HP:0000093	Proteinuria	0	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040280 - Obligate	177
HP:0000093	HP:0000093	Proteinuria	0	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0000093	HP:0000093	Proteinuria	0	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0000093	HP:4000058	Glomerular proteinuria	1	CL E G H
HP:0000093	HP:0012596	Moderate proteinuria	1	CL E G H
HP:0000093	HP:0012593	Nephrotic range proteinuria	1	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0000093	HP:0003126	Low-molecular-weight proteinuria	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1		112
HP:0000093	HP:0003126	Low-molecular-weight proteinuria	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0000093	HP:0003126	Low-molecular-weight proteinuria	1	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I	.	112
HP:0000093	HP:0003126	Low-molecular-weight proteinuria	1	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis		112
HP:0000093	HP:0012597	Heavy proteinuria	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040281 - Very frequent	54
HP:0000093	HP:0003126	Low-molecular-weight proteinuria	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0000093	HP:0003126	Low-molecular-weight proteinuria	1	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0000093	HP:0003126	Low-molecular-weight proteinuria	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040282 - Frequent	178
HP:0000093	HP:0012593	Nephrotic range proteinuria	1	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040284 - Very rare	62
HP:0000093	HP:0003126	Low-molecular-weight proteinuria	1	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3		2
HP:0000093	HP:0003126	Low-molecular-weight proteinuria	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	2
HP:0000093	HP:0003126	Low-molecular-weight proteinuria	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	86
HP:0000093	HP:0012595	Mild proteinuria	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000093	HP:0003126	Low-molecular-weight proteinuria	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	39
HP:0000093	HP:0012593	Nephrotic range proteinuria	1	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22		4
HP:0000093	HP:0003126	Low-molecular-weight proteinuria	1	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0000093	HP:0012595	Mild proteinuria	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0000093	HP:0012597	Heavy proteinuria	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040281 - Very frequent	54
HP:0000093	HP:0012595	Mild proteinuria	1	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional	56
HP:0000093	HP:0012595	Mild proteinuria	1	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional	57
HP:0000093	HP:0003126	Low-molecular-weight proteinuria	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	47
HP:0000093	HP:0012593	Nephrotic range proteinuria	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0000093	HP:0012597	Heavy proteinuria	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0000093	HP:0012595	Mild proteinuria	1	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000093	HP:0012595	Mild proteinuria	1	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13	HP:0040283 - Occasional	95