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:0011038	HP:0011038	Abnormal renal tubular resorption	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome		72
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		53
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5		342
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		9
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3		27
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		27
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis		178
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome		16
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome		16
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1		46
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease		90
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency		138
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation		89
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0011038	HP:0011038	Abnormal renal tubular resorption	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0011038	HP:0034356	Impaired renal tubular reabsorption of low molecular weight protein	1	CL E G H
HP:0011038	HP:0033774	Impaired renal tubular reabsorption of uric acid	1	CL E G H
HP:0011038	HP:0033759	Impaired renal tubular reabsorption of magnesium	1	CL E G H
HP:0011038	HP:0008666	Impaired histidine renal tubular absorption	1	CL E G H
HP:0011038	HP:0034359	Impaired renal tubular reabsorption of phosphate	1	CL E G H
HP:0011038	HP:0034358	Impaired renal tubular reabsorption of sodium	1	CL E G H
HP:0011038	HP:0034357	Impaired renal tubular reabsorption of glucose	1	CL E G H
HP:0011038	HP:0001994	Renal Fanconi syndrome	1	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent	72
HP:0011038	HP:0004727	Impaired renal concentrating ability	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0011038	HP:0004727	Impaired renal concentrating ability	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	53
HP:0011038	HP:0004727	Impaired renal concentrating ability	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0011038	HP:0004727	Impaired renal concentrating ability	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	9
HP:0011038	HP:0005579	Impaired renal ltubular reabsorption of chloride	1	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.	27
HP:0011038	HP:0001994	Renal Fanconi syndrome	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0011038	HP:0004727	Impaired renal concentrating ability	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	27
HP:0011038	HP:0001994	Renal Fanconi syndrome	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0011038	HP:0001994	Renal Fanconi syndrome	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0011038	HP:0001994	Renal Fanconi syndrome	1	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0011038	HP:0001994	Renal Fanconi syndrome	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040282 - Frequent	178
HP:0011038	HP:0001994	Renal Fanconi syndrome	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0011038	HP:0004727	Impaired renal concentrating ability	1	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome	.	16
HP:0011038	HP:0004727	Impaired renal concentrating ability	1	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome	HP:0040282 - Frequent	16
HP:0011038	HP:0005571	Increased renal tubular phosphate reabsorption	1	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.	46
HP:0011038	HP:0001994	Renal Fanconi syndrome	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0011038	HP:0001994	Renal Fanconi syndrome	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent	138
HP:0011038	HP:0004727	Impaired renal concentrating ability	1	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0011038	HP:0001994	Renal Fanconi syndrome	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0011038	HP:0001994	Renal Fanconi syndrome	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040284 - Very rare	46
HP:0011038	HP:0001994	Renal Fanconi syndrome	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0011038	HP:0001994	Renal Fanconi syndrome	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0011038	HP:0001994	Renal Fanconi syndrome	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0011038	HP:4000010	Impaired renal tubular reabsorption of bicarbonate	1	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation		89
HP:0011038	HP:0001994	Renal Fanconi syndrome	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0011038	HP:0001994	Renal Fanconi syndrome	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0011038	HP:0001994	Renal Fanconi syndrome	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.