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:0030760	HP:0030760	Renal fibrosis	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0030760	HP:0030760	Renal fibrosis	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0030760	HP:0030760	Renal fibrosis	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0030760	HP:0030760	Renal fibrosis	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0030760	HP:0030760	Renal fibrosis	0	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I		112
HP:0030760	HP:0030760	Renal fibrosis	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV		86
HP:0030760	HP:0030760	Renal fibrosis	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2		1
HP:0030760	HP:0030760	Renal fibrosis	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0030760	HP:0030760	Renal fibrosis	0	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1		85
HP:0030760	HP:0030760	Renal fibrosis	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0030760	HP:0030760	Renal fibrosis	0	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3		157
HP:0030760	HP:0030760	Renal fibrosis	0	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4		220
HP:0030760	HP:0030760	Renal fibrosis	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0030760	HP:0030760	Renal fibrosis	0	PTPRO CL E G H	5800	9678	OMIM:614196	Nephrotic syndrome, type 6		2
HP:0030760	HP:0030760	Renal fibrosis	0	REN CL E G H	5972	9958	OMIM:613092	Hyperuricemic nephropathy, familial juvenile, 2		25
HP:0030760	HP:0030760	Renal fibrosis	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0030760	HP:0030760	Renal fibrosis	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional	104
HP:0030760	HP:0005576	Tubulointerstitial fibrosis	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0030760	HP:0005576	Tubulointerstitial fibrosis	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0030760	HP:0005576	Tubulointerstitial fibrosis	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0030760	HP:0005576	Tubulointerstitial fibrosis	1	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I	.	112
HP:0030760	HP:0005576	Tubulointerstitial fibrosis	1	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.	86
HP:0030760	HP:0005576	Tubulointerstitial fibrosis	1	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0030760	HP:0005576	Tubulointerstitial fibrosis	1	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0030760	HP:0005576	Tubulointerstitial fibrosis	1	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1	.	85
HP:0030760	HP:0005576	Tubulointerstitial fibrosis	1	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0030760	HP:0005576	Tubulointerstitial fibrosis	1	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3	.	157
HP:0030760	HP:0005576	Tubulointerstitial fibrosis	1	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4	.	220
HP:0030760	HP:0005576	Tubulointerstitial fibrosis	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.	563
HP:0030760	HP:0005576	Tubulointerstitial fibrosis	1	PTPRO CL E G H	5800	9678	OMIM:614196	Nephrotic syndrome, type 6	.	2
HP:0030760	HP:0005576	Tubulointerstitial fibrosis	1	REN CL E G H	5972	9958	OMIM:613092	Hyperuricemic nephropathy, familial juvenile, 2	.	25
HP:0030760	HP:0005576	Tubulointerstitial fibrosis	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110