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:0011036	HP:0011036	Abnormality of renal excretion	0	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis		113
HP:0011036	HP:0011036	Abnormality of renal excretion	0	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis		48
HP:0011036	HP:0011036	Abnormality of renal excretion	0	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis		33
HP:0011036	HP:0011036	Abnormality of renal excretion	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency		19
HP:0011036	HP:0011036	Abnormality of renal excretion	0	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0011036	HP:0011036	Abnormality of renal excretion	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0011036	HP:0011036	Abnormality of renal excretion	0	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2		4
HP:0011036	HP:0011036	Abnormality of renal excretion	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked		67
HP:0011036	HP:0011036	Abnormality of renal excretion	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0011036	HP:0011036	Abnormality of renal excretion	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe		272
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4		30
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1		86
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		9
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3		27
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		27
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal		58
HP:0011036	HP:0011036	Abnormality of renal excretion	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011036	HP:0011036	Abnormality of renal excretion	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0011036	HP:0011036	Abnormality of renal excretion	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1		73
HP:0011036	HP:0011036	Abnormality of renal excretion	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0011036	HP:0011036	Abnormality of renal excretion	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0011036	HP:0011036	Abnormality of renal excretion	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0011036	HP:0011036	Abnormality of renal excretion	0	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome		16
HP:0011036	HP:0011036	Abnormality of renal excretion	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1		46
HP:0011036	HP:0011036	Abnormality of renal excretion	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0011036	HP:0011036	Abnormality of renal excretion	0	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1		161
HP:0011036	HP:0011036	Abnormality of renal excretion	0	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1		2
HP:0011036	HP:0011036	Abnormality of renal excretion	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0011036	HP:0011036	Abnormality of renal excretion	0	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1
HP:0011036	HP:0011036	Abnormality of renal excretion	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0011036	HP:0011036	Abnormality of renal excretion	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0011036	HP:0011036	Abnormality of renal excretion	0	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III		128
HP:0011036	HP:0011036	Abnormality of renal excretion	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0011036	HP:0011036	Abnormality of renal excretion	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0011036	HP:0011036	Abnormality of renal excretion	0	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient		6
HP:0011036	HP:0011036	Abnormality of renal excretion	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2		1
HP:0011036	HP:0011036	Abnormality of renal excretion	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0011036	HP:0011036	Abnormality of renal excretion	0	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1		85
HP:0011036	HP:0011036	Abnormality of renal excretion	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0011036	HP:0011036	Abnormality of renal excretion	0	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3		157
HP:0011036	HP:0011036	Abnormality of renal excretion	0	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4		220
HP:0011036	HP:0011036	Abnormality of renal excretion	0	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4		220
HP:0011036	HP:0011036	Abnormality of renal excretion	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0011036	HP:0011036	Abnormality of renal excretion	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0011036	HP:0011036	Abnormality of renal excretion	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0011036	HP:0011036	Abnormality of renal excretion	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0011036	HP:0011036	Abnormality of renal excretion	0	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1		3
HP:0011036	HP:0011036	Abnormality of renal excretion	0	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis		25
HP:0011036	HP:0011036	Abnormality of renal excretion	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0011036	HP:0011036	Abnormality of renal excretion	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0011036	HP:0011036	Abnormality of renal excretion	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0011036	HP:0011036	Abnormality of renal excretion	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0011036	HP:0011036	Abnormality of renal excretion	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0011036	HP:0011036	Abnormality of renal excretion	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0011036	HP:0011036	Abnormality of renal excretion	0	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2		47
HP:0011036	HP:0011036	Abnormality of renal excretion	0	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0011036	HP:0011036	Abnormality of renal excretion	0	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria		41
HP:0011036	HP:0011036	Abnormality of renal excretion	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0011036	HP:0011036	Abnormality of renal excretion	0	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6		60
HP:0011036	HP:0011036	Abnormality of renal excretion	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11		166
HP:0011036	HP:0012590	Abnormal urine output	1	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis		113
HP:0011036	HP:0012590	Abnormal urine output	1	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis		48
HP:0011036	HP:0012590	Abnormal urine output	1	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis		33
HP:0011036	HP:0012590	Abnormal urine output	1	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0011036	HP:0012590	Abnormal urine output	1	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency		19
HP:0011036	HP:0012590	Abnormal urine output	1	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0011036	HP:0012590	Abnormal urine output	1	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2		4
HP:0011036	HP:0012590	Abnormal urine output	1	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked		67
HP:0011036	HP:0012590	Abnormal urine output	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0011036	HP:0012590	Abnormal urine output	1	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0011036	HP:0012590	Abnormal urine output	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe		272
HP:0011036	HP:0012590	Abnormal urine output	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0011036	HP:0012590	Abnormal urine output	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0011036	HP:0012590	Abnormal urine output	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0011036	HP:0012590	Abnormal urine output	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0011036	HP:0012590	Abnormal urine output	1	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0011036	HP:0012590	Abnormal urine output	1	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4		30
HP:0011036	HP:0012590	Abnormal urine output	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1		86
HP:0011036	HP:0012590	Abnormal urine output	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011036	HP:0012590	Abnormal urine output	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011036	HP:0012590	Abnormal urine output	1	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0011036	HP:0012590	Abnormal urine output	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		9
HP:0011036	HP:0012590	Abnormal urine output	1	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3		27
HP:0011036	HP:0012590	Abnormal urine output	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		27
HP:0011036	HP:0012590	Abnormal urine output	1	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0011036	HP:0012590	Abnormal urine output	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal		58
HP:0011036	HP:0012590	Abnormal urine output	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011036	HP:0012590	Abnormal urine output	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011036	HP:0012590	Abnormal urine output	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0011036	HP:0012590	Abnormal urine output	1	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1		73
HP:0011036	HP:0012590	Abnormal urine output	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0011036	HP:0012590	Abnormal urine output	1	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome		16
HP:0011036	HP:0005572	Decreased renal tubular phosphate excretion	1	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.	46
HP:0011036	HP:0012590	Abnormal urine output	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0011036	HP:0012590	Abnormal urine output	1	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1		161
HP:0011036	HP:0012590	Abnormal urine output	1	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1		2
HP:0011036	HP:0012590	Abnormal urine output	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0011036	HP:0012590	Abnormal urine output	1	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1
HP:0011036	HP:0012590	Abnormal urine output	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0011036	HP:0012590	Abnormal urine output	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0011036	HP:0012590	Abnormal urine output	1	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III		128
HP:0011036	HP:0012590	Abnormal urine output	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0011036	HP:0012590	Abnormal urine output	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0011036	HP:0012590	Abnormal urine output	1	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient		6
HP:0011036	HP:0004732	Impaired renal uric acid clearance	1	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0011036	HP:0012590	Abnormal urine output	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0011036	HP:0012590	Abnormal urine output	1	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1		85
HP:0011036	HP:0012590	Abnormal urine output	1	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0011036	HP:0012590	Abnormal urine output	1	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3		157
HP:0011036	HP:0012590	Abnormal urine output	1	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4		220
HP:0011036	HP:0012590	Abnormal urine output	1	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4		220
HP:0011036	HP:0012590	Abnormal urine output	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0011036	HP:0012590	Abnormal urine output	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0011036	HP:0012590	Abnormal urine output	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0011036	HP:0012590	Abnormal urine output	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0011036	HP:0012590	Abnormal urine output	1	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1		3
HP:0011036	HP:0012590	Abnormal urine output	1	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis		25
HP:0011036	HP:0012590	Abnormal urine output	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0011036	HP:0012590	Abnormal urine output	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0011036	HP:0012590	Abnormal urine output	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0011036	HP:0012590	Abnormal urine output	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0011036	HP:0012590	Abnormal urine output	1	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0011036	HP:0012590	Abnormal urine output	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0011036	HP:0012590	Abnormal urine output	1	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2		47
HP:0011036	HP:0012590	Abnormal urine output	1	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0011036	HP:0012590	Abnormal urine output	1	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria		41
HP:0011036	HP:0012590	Abnormal urine output	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0011036	HP:0012590	Abnormal urine output	1	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6		60
HP:0011036	HP:0012590	Abnormal urine output	1	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11		166
HP:0011036	HP:0011037	Decreased urine output	2	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis		113
HP:0011036	HP:0011037	Decreased urine output	2	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis		48
HP:0011036	HP:0011037	Decreased urine output	2	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis		33
HP:0011036	HP:0011037	Decreased urine output	2	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency		19
HP:0011036	HP:0011037	Decreased urine output	2	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0011036	HP:0000103	Polyuria	2	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0011036	HP:0000103	Polyuria	2	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2	.	4
HP:0011036	HP:0000103	Polyuria	2	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.	67
HP:0011036	HP:0000103	Polyuria	2	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0011036	HP:0011037	Decreased urine output	2	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0011036	HP:0000103	Polyuria	2	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0011036	HP:0011037	Decreased urine output	2	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0011036	HP:0000103	Polyuria	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0011036	HP:0011037	Decreased urine output	2	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0011036	HP:0011037	Decreased urine output	2	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0011036	HP:0011037	Decreased urine output	2	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0011036	HP:0011037	Decreased urine output	2	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4		30
HP:0011036	HP:0011037	Decreased urine output	2	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1		86
HP:0011036	HP:0011037	Decreased urine output	2	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011036	HP:0011037	Decreased urine output	2	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011036	HP:0011037	Decreased urine output	2	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0011036	HP:0000103	Polyuria	2	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0011036	HP:0000103	Polyuria	2	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.	27
HP:0011036	HP:0000103	Polyuria	2	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27
HP:0011036	HP:0000103	Polyuria	2	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome	.	3
HP:0011036	HP:0000103	Polyuria	2	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0011036	HP:0011037	Decreased urine output	2	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011036	HP:0011037	Decreased urine output	2	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011036	HP:0000103	Polyuria	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0011036	HP:0000103	Polyuria	2	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.	73
HP:0011036	HP:0011037	Decreased urine output	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0011036	HP:0000103	Polyuria	2	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome	.	16
HP:0011036	HP:0011037	Decreased urine output	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0011036	HP:0000103	Polyuria	2	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	161
HP:0011036	HP:0000103	Polyuria	2	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	2
HP:0011036	HP:0011037	Decreased urine output	2	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0011036	HP:0000103	Polyuria	2	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.
HP:0011036	HP:0000103	Polyuria	2	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0011036	HP:0000103	Polyuria	2	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0011036	HP:0000103	Polyuria	2	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III	HP:0040283 - Occasional	128
HP:0011036	HP:0011037	Decreased urine output	2	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0011036	HP:0000103	Polyuria	2	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0011036	HP:0000103	Polyuria	2	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient		6
HP:0011036	HP:0011037	Decreased urine output	2	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0011036	HP:0000103	Polyuria	2	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1	.	85
HP:0011036	HP:0000103	Polyuria	2	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1	.	85
HP:0011036	HP:0000103	Polyuria	2	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3	.	157
HP:0011036	HP:0000103	Polyuria	2	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4	.	220
HP:0011036	HP:0000103	Polyuria	2	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.	220
HP:0011036	HP:0011037	Decreased urine output	2	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0011036	HP:0011037	Decreased urine output	2	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0011036	HP:0011037	Decreased urine output	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0011036	HP:0000103	Polyuria	2	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0011036	HP:0000103	Polyuria	2	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	3
HP:0011036	HP:0011037	Decreased urine output	2	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis		25
HP:0011036	HP:0011037	Decreased urine output	2	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0011036	HP:0000103	Polyuria	2	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0011036	HP:0000103	Polyuria	2	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0011036	HP:0000103	Polyuria	2	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0011036	HP:0011037	Decreased urine output	2	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0011036	HP:0011037	Decreased urine output	2	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0011036	HP:0000103	Polyuria	2	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2		47
HP:0011036	HP:0000103	Polyuria	2	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0011036	HP:0000103	Polyuria	2	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria	.	41
HP:0011036	HP:0000103	Polyuria	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0011036	HP:0011037	Decreased urine output	2	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6		60
HP:0011036	HP:0000103	Polyuria	2	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11		166
HP:0011036	HP:0100519	Anuria	3	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.	113
HP:0011036	HP:0100519	Anuria	3	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.	48
HP:0011036	HP:0100519	Anuria	3	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.	33
HP:0011036	HP:0100520	Oliguria	3	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0011036	HP:0100520	Oliguria	3	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional	19
HP:0011036	HP:0100519	Anuria	3	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5	.	92
HP:0011036	HP:0100520	Oliguria	3	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	11
HP:0011036	HP:0100520	Oliguria	3	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0011036	HP:0100520	Oliguria	3	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0011036	HP:0100519	Anuria	3	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2	.	39
HP:0011036	HP:0100519	Anuria	3	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4	.	30
HP:0011036	HP:0100519	Anuria	3	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0011036	HP:0100519	Anuria	3	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0011036	HP:0100519	Anuria	3	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0011036	HP:0100519	Anuria	3	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3	.	57
HP:0011036	HP:0100520	Oliguria	3	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011036	HP:0100520	Oliguria	3	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011036	HP:0100520	Oliguria	3	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	4
HP:0011036	HP:0100520	Oliguria	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	2
HP:0011036	HP:0100520	Oliguria	3	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	4
HP:0011036	HP:0100520	Oliguria	3	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0011036	HP:0100519	Anuria	3	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0011036	HP:0100520	Oliguria	3	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0011036	HP:0100520	Oliguria	3	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0011036	HP:0100520	Oliguria	3	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	563
HP:0011036	HP:0100519	Anuria	3	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.	25
HP:0011036	HP:0100520	Oliguria	3	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0011036	HP:0100520	Oliguria	3	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0011036	HP:0100520	Oliguria	3	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040283 - Occasional	40
HP:0011036	HP:0100519	Anuria	3	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6	.	60