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:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease		93
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	AVPR2 CL E G H	554	897	OMIM:300539	Nephrogenic syndrome of inappropriate antidiuresis		67
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease		5
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma		1
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4		30
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1		86
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8		1
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia		5
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency		80
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic		15
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia		11
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease		6
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia		580
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency		76
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease		148
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2		106
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2		1
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	NT5E CL E G H	4907	8021	ORPHA:289601	Hereditary arterial and articular multiple calcification syndrome		3
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease		342
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease		106
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant		109
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia		2
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6		60
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		56
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012100	HP:0012100	Abnormal circulating creatinine concentration	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.	129
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	93
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0012100	HP:0012101	Decreased serum creatinine	1	AVPR2 CL E G H	554	897	OMIM:300539	Nephrogenic syndrome of inappropriate antidiuresis	.	67
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	5
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5	.	92
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040282 - Frequent	1
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2	.	39
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4	.	30
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3	.	57
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8		1
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare	5
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040282 - Frequent	80
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic	.	15
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare	11
HP:0012100	HP:0012101	Decreased serum creatinine	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012100	HP:0012101	Decreased serum creatinine	1	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	6
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040283 - Occasional	580
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040283 - Occasional	76
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	148
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	106
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0012100	HP:0012101	Decreased serum creatinine	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0012100	HP:0012101	Decreased serum creatinine	1	NT5E CL E G H	4907	8021	ORPHA:289601	Hereditary arterial and articular multiple calcification syndrome	HP:0040282 - Frequent	3
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	342
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	106
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2	.	106
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant		109
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare	2
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6	.	60
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040282 - Frequent	56
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012100	HP:0003259	Elevated circulating creatinine concentration	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95