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