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:0000112	HP:0000112	Nephropathy	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional	245
HP:0000112	HP:0000112	Nephropathy	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040283 - Occasional	22
HP:0000112	HP:0000112	Nephropathy	0	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral	.	40
HP:0000112	HP:0000112	Nephropathy	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional	2
HP:0000112	HP:0000112	Nephropathy	0	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral	.	8
HP:0000112	HP:0000112	Nephropathy	0	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional	75
HP:0000112	HP:0000112	Nephropathy	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	247
HP:0000112	HP:0000112	Nephropathy	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	247
HP:0000112	HP:0000112	Nephropathy	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040282 - Frequent	1
HP:0000112	HP:0000112	Nephropathy	0	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional	25
HP:0000112	HP:0000112	Nephropathy	0	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	7
HP:0000112	HP:0000112	Nephropathy	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	342
HP:0000112	HP:0000112	Nephropathy	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent	3
HP:0000112	HP:0000112	Nephropathy	0	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	HP:0040281 - Very frequent	42
HP:0000112	HP:0000112	Nephropathy	0	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	.	193
HP:0000112	HP:0000112	Nephropathy	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent	678
HP:0000112	HP:0000112	Nephropathy	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent	18
HP:0000112	HP:0000112	Nephropathy	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000112	HP:0000112	Nephropathy	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000112	HP:0000112	Nephropathy	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000112	HP:0000112	Nephropathy	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional	72
HP:0000112	HP:0000112	Nephropathy	0	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	304
HP:0000112	HP:0000112	Nephropathy	0	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional
HP:0000112	HP:0000112	Nephropathy	0	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional
HP:0000112	HP:0000112	Nephropathy	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	7
HP:0000112	HP:0000112	Nephropathy	0	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome	HP:0040281 - Very frequent	16
HP:0000112	HP:0000112	Nephropathy	0	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral	.	47
HP:0000112	HP:0000112	Nephropathy	0	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional	33
HP:0000112	HP:0000112	Nephropathy	0	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional	237
HP:0000112	HP:0000112	Nephropathy	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent	291
HP:0000112	HP:0000112	Nephropathy	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional
HP:0000112	HP:0000112	Nephropathy	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional	161
HP:0000112	HP:0000112	Nephropathy	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional	138
HP:0000112	HP:0000112	Nephropathy	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040282 - Frequent	76
HP:0000112	HP:0000112	Nephropathy	0	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	148
HP:0000112	HP:0000112	Nephropathy	0	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	48
HP:0000112	HP:0000112	Nephropathy	0	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	65
HP:0000112	HP:0000112	Nephropathy	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0000112	HP:0000112	Nephropathy	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	111
HP:0000112	HP:0000112	Nephropathy	0	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional	62
HP:0000112	HP:0000112	Nephropathy	0	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional	121
HP:0000112	HP:0000112	Nephropathy	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional	127
HP:0000112	HP:0000112	Nephropathy	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional	78
HP:0000112	HP:0000112	Nephropathy	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000112	HP:0000112	Nephropathy	0	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral	.	32
HP:0000112	HP:0000112	Nephropathy	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040282 - Frequent	63
HP:0000112	HP:0000112	Nephropathy	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional	281
HP:0000112	HP:0000112	Nephropathy	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0000112	HP:0000112	Nephropathy	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040282 - Frequent	297
HP:0000112	HP:0000112	Nephropathy	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000112	HP:0000112	Nephropathy	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000112	HP:0000112	Nephropathy	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000112	HP:0000112	Nephropathy	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000112	HP:0000112	Nephropathy	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional	32
HP:0000112	HP:0000112	Nephropathy	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040282 - Frequent	217
HP:0000112	HP:0000112	Nephropathy	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional	187
HP:0000112	HP:0000112	Nephropathy	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent	85
HP:0000112	HP:0000112	Nephropathy	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent	5
HP:0000112	HP:0000112	Nephropathy	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent	1
HP:0000112	HP:0000112	Nephropathy	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000112	HP:0000112	Nephropathy	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional	231
HP:0000112	HP:0000112	Nephropathy	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional	55
HP:0000112	HP:0000112	Nephropathy	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		194
HP:0000112	HP:0000112	Nephropathy	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional	30
HP:0000112	HP:0000112	Nephropathy	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000112	HP:0000112	Nephropathy	0	PRODH CL E G H	5625	9453	ORPHA:419	Hyperprolinemia type 1	HP:0040282 - Frequent	13
HP:0000112	HP:0000112	Nephropathy	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	167
HP:0000112	HP:0000112	Nephropathy	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent	167
HP:0000112	HP:0000112	Nephropathy	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040281 - Very frequent	2
HP:0000112	HP:0000112	Nephropathy	0	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure	.	77
HP:0000112	HP:0000112	Nephropathy	0	SCNN1A CL E G H	6337	10599	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent	67
HP:0000112	HP:0000112	Nephropathy	0	SCNN1B CL E G H	6338	10600	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent	61
HP:0000112	HP:0000112	Nephropathy	0	SCNN1G CL E G H	6340	10602	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent	57
HP:0000112	HP:0000112	Nephropathy	0	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.	2
HP:0000112	HP:0000112	Nephropathy	0	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional	274
HP:0000112	HP:0000112	Nephropathy	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040283 - Occasional	71
HP:0000112	HP:0000112	Nephropathy	0	SLC5A2 CL E G H	6524	11037	ORPHA:69076	Familial renal glucosuria	HP:0040280 - Obligate	41
HP:0000112	HP:0000112	Nephropathy	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040281 - Very frequent	74
HP:0000112	HP:0000112	Nephropathy	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	39
HP:0000112	HP:0000112	Nephropathy	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	45
HP:0000112	HP:0000112	Nephropathy	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	33
HP:0000112	HP:0000112	Nephropathy	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	82
HP:0000112	HP:0000112	Nephropathy	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent	82
HP:0000112	HP:0000112	Nephropathy	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	166
HP:0000112	HP:0000112	Nephropathy	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000112	HP:0000112	Nephropathy	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000112	HP:0000112	Nephropathy	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040282 - Frequent	56
HP:0000112	HP:0000112	Nephropathy	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000112	HP:0000112	Nephropathy	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000112	HP:0000112	Nephropathy	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000112	HP:0000112	Nephropathy	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000112	HP:0000112	Nephropathy	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000112	HP:0000112	Nephropathy	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000112	HP:0000112	Nephropathy	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000112	HP:0000112	Nephropathy	0	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	132
HP:0000112	HP:0000112	Nephropathy	0	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis	HP:0040281 - Very frequent	107
HP:0000112	HP:0000112	Nephropathy	0	UMOD CL E G H	7369	12559	OMIM:162000	Hyperuricemic nephropathy, familial juvenile, 1	.	66
HP:0000112	HP:0000112	Nephropathy	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0000112	HP:0000112	Nephropathy	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0000112	HP:0000112	Nephropathy	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0000112	HP:0000112	Nephropathy	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0000112	HP:0000112	Nephropathy	0	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	95
HP:0000112	HP:0000112	Nephropathy	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000112	HP:0000112	Nephropathy	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent	14
HP:0000112	HP:0000112	Nephropathy	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent	389
HP:0000112	HP:0000112	Nephropathy	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0000112	HP:0000112	Nephropathy	0	WT1 CL E G H	7490	12796	ORPHA:220	Denys-Drash syndrome	HP:0040281 - Very frequent	177
HP:0000112	HP:0000112	Nephropathy	0	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.	177
HP:0000112	HP:0000112	Nephropathy	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		177
HP:0000112	HP:0000112	Nephropathy	0	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional	14
HP:0000112	HP:0000112	Nephropathy	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	49