Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	ADCY10 CL E G H	55811	21285	OMIM:143870	Hypercalciuria, absorptive, susceptibility to			5
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	ADCY10 CL E G H	55811	21285	ORPHA:2197	Idiopathic hypercalciuria			5
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III			6
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia			272
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe			272
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1			272
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I			272
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism			169
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies			114
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I			112
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis			112
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3			27
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome			3
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement			42
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1			73
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome			16
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	FGF23 CL E G H	8074	3680	OMIM:617993	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2			51
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	FXYD2 CL E G H	486	4026	OMIM:154020	Hypomagnesemia 2, renal			17
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism			51
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland			51
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia			16
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II			16
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney			90
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III			128
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III			128
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient			6
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism			462
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2			88
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia			56
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia			57
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2			47
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			47
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2			47
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1			47
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			52
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0011280	HP:0011280	Abnormality of urine calcium concentration	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0011280	HP:0003513	Reduced ratio of renal calcium clearance to creatinine clearance	1	CL E G H
HP:0011280	HP:0002150	Hypercalciuria	1	ADCY10 CL E G H	55811	21285	OMIM:143870	Hypercalciuria, absorptive, susceptibility to	.		5
HP:0011280	HP:0002150	Hypercalciuria	1	ADCY10 CL E G H	55811	21285	ORPHA:2197	Idiopathic hypercalciuria	HP:0040280 - Obligate		5
HP:0011280	HP:0012637	Renal calcium wasting	1	ADCY10 CL E G H	55811	21285	ORPHA:2197	Idiopathic hypercalciuria	HP:0040280 - Obligate		5
HP:0011280	HP:0002150	Hypercalciuria	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0011280	HP:0002150	Hypercalciuria	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0011280	HP:0003127	Hypocalciuria	1	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.		6
HP:0011280	HP:0002150	Hypercalciuria	1	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0011280	HP:0002150	Hypercalciuria	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.		315
HP:0011280	HP:0002150	Hypercalciuria	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011280	HP:0002150	Hypercalciuria	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011280	HP:0002150	Hypercalciuria	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		53
HP:0011280	HP:0002150	Hypercalciuria	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0011280	HP:0002150	Hypercalciuria	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011280	HP:0002150	Hypercalciuria	1	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent		272
HP:0011280	HP:0002150	Hypercalciuria	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.		272
HP:0011280	HP:0002150	Hypercalciuria	1	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1			272
HP:0011280	HP:0003127	Hypocalciuria	1	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I	.		272
HP:0011280	HP:0002150	Hypercalciuria	1	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I	HP:0040284 - Very rare		272
HP:0011280	HP:0002150	Hypercalciuria	1	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent		169
HP:0011280	HP:0002150	Hypercalciuria	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040281 - Very frequent		169
HP:0011280	HP:0002150	Hypercalciuria	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040281 - Very frequent		169
HP:0011280	HP:0002150	Hypercalciuria	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		2
HP:0011280	HP:0002150	Hypercalciuria	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		102
HP:0011280	HP:0002150	Hypercalciuria	1	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.		114
HP:0011280	HP:0002150	Hypercalciuria	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		1
HP:0011280	HP:0002150	Hypercalciuria	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0011280	HP:0002150	Hypercalciuria	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	.		1371
HP:0011280	HP:0002150	Hypercalciuria	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0011280	HP:0002150	Hypercalciuria	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0011280	HP:0002150	Hypercalciuria	1	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I	.		112
HP:0011280	HP:0002150	Hypercalciuria	1	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis			112
HP:0011280	HP:0002150	Hypercalciuria	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		9
HP:0011280	HP:0003127	Hypocalciuria	1	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	HP:0040283 - Occasional		27
HP:0011280	HP:0002150	Hypercalciuria	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		27
HP:0011280	HP:0003127	Hypocalciuria	1	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome	.		3
HP:0011280	HP:0012637	Renal calcium wasting	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.		58
HP:0011280	HP:0002150	Hypercalciuria	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.		58
HP:0011280	HP:0002150	Hypercalciuria	1	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.		42
HP:0011280	HP:0012637	Renal calcium wasting	1	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.		42
HP:0011280	HP:0002150	Hypercalciuria	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011280	HP:0002150	Hypercalciuria	1	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.		73
HP:0011280	HP:0002150	Hypercalciuria	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011280	HP:0002150	Hypercalciuria	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional		2
HP:0011280	HP:0002150	Hypercalciuria	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011280	HP:0002150	Hypercalciuria	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0011280	HP:0002150	Hypercalciuria	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0011280	HP:0003127	Hypocalciuria	1	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome	HP:0040282 - Frequent		16
HP:0011280	HP:0002150	Hypercalciuria	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	.		6
HP:0011280	HP:0002150	Hypercalciuria	1	FGF23 CL E G H	8074	3680	OMIM:617993	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2			51
HP:0011280	HP:0002150	Hypercalciuria	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011280	HP:0003127	Hypocalciuria	1	FXYD2 CL E G H	486	4026	OMIM:154020	Hypomagnesemia 2, renal	.		17
HP:0011280	HP:0002150	Hypercalciuria	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional		86
HP:0011280	HP:0002150	Hypercalciuria	1	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent		51
HP:0011280	HP:0002150	Hypercalciuria	1	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	HP:0040281 - Very frequent		51
HP:0011280	HP:0002150	Hypercalciuria	1	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent		16
HP:0011280	HP:0003127	Hypocalciuria	1	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II	.		16
HP:0011280	HP:0002150	Hypercalciuria	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011280	HP:0002150	Hypercalciuria	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011280	HP:0002150	Hypercalciuria	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011280	HP:0002150	Hypercalciuria	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0011280	HP:0002150	Hypercalciuria	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.		2
HP:0011280	HP:0002150	Hypercalciuria	1	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney	HP:0040282 - Frequent		90
HP:0011280	HP:0002150	Hypercalciuria	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional		229
HP:0011280	HP:0002150	Hypercalciuria	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0011280	HP:0003127	Hypocalciuria	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.		121
HP:0011280	HP:0002150	Hypercalciuria	1	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040283 - Occasional		128
HP:0011280	HP:0002150	Hypercalciuria	1	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III	HP:0040283 - Occasional		128
HP:0011280	HP:0002150	Hypercalciuria	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011280	HP:0002150	Hypercalciuria	1	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient			6
HP:0011280	HP:0002150	Hypercalciuria	1	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent		462
HP:0011280	HP:0002150	Hypercalciuria	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		462
HP:0011280	HP:0002150	Hypercalciuria	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011280	HP:0002150	Hypercalciuria	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011280	HP:0002150	Hypercalciuria	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0011280	HP:0002150	Hypercalciuria	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0011280	HP:0002150	Hypercalciuria	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional		39
HP:0011280	HP:0002150	Hypercalciuria	1	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2			88
HP:0011280	HP:0002150	Hypercalciuria	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent		88
HP:0011280	HP:0003127	Hypocalciuria	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040281 - Very frequent		217
HP:0011280	HP:0002150	Hypercalciuria	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040282 - Frequent		12
HP:0011280	HP:0002150	Hypercalciuria	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0011280	HP:0002150	Hypercalciuria	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0011280	HP:0002150	Hypercalciuria	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.		58
HP:0011280	HP:0002150	Hypercalciuria	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011280	HP:0002150	Hypercalciuria	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0011280	HP:0003127	Hypocalciuria	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome	.		145
HP:0011280	HP:0002150	Hypercalciuria	1	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional		56
HP:0011280	HP:0002150	Hypercalciuria	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040282 - Frequent		71
HP:0011280	HP:0002150	Hypercalciuria	1	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional		57
HP:0011280	HP:0002150	Hypercalciuria	1	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2	.	HP:0011463 - Childhood onset	47
HP:0011280	HP:0002150	Hypercalciuria	1	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent		47
HP:0011280	HP:0002150	Hypercalciuria	1	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2			47
HP:0011280	HP:0002150	Hypercalciuria	1	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	.		47
HP:0011280	HP:0002150	Hypercalciuria	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional		47
HP:0011280	HP:0002150	Hypercalciuria	1	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent		52
HP:0011280	HP:0002150	Hypercalciuria	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0011280	HP:0002150	Hypercalciuria	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011280	HP:0002150	Hypercalciuria	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011280	HP:0002150	Hypercalciuria	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	.		13
HP:0011280	HP:0002150	Hypercalciuria	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011280	HP:0002150	Hypercalciuria	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0011280	HP:0002150	Hypercalciuria	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent