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:0003072 | HP:0003072 | Hypercalcemia | 0 | ALPL CL E G H | 249 | 438 | OMIM:241500 | Hypophosphatasia, infantile | . | | | 126 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | AP2S1 CL E G H | 1175 | 565 | OMIM:600740 | Hypocalciuric hypercalcemia, familial, type III | . | | | 6 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 1 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | . | | | 272 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | CASR CL E G H | 846 | 1514 | OMIM:145980 | Hypocalciuric hypercalcemia, familial, type I | . | | | 272 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | HP:0040283 - Occasional | | | 1 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 169 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | CDC73 CL E G H | 79577 | 16783 | OMIM:145000 | Hyperparathyroidism 1 | . | | | 169 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | CDC73 CL E G H | 79577 | 16783 | OMIM:145001 | Hyperparathyroidism 2 | . | | | 169 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040280 - Obligate | | | 169 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | CDC73 CL E G H | 79577 | 16783 | OMIM:608266 | Parathyroid carcinoma | . | | | 169 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040280 - Obligate | | | 169 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 2 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 102 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040281 - Very frequent | | | 102 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | . | | | 114 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 1 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | CYP24A1 CL E G H | 1591 | 2602 | OMIM:143880 | Hypercalcemia, infantile, 1 | | | | 73 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 44 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 112 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 301 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | GCM2 CL E G H | 9247 | 4198 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 51 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | GCM2 CL E G H | 9247 | 4198 | OMIM:617343 | Hyperparathyroidism 4 | . | | | 51 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | GNA11 CL E G H | 2767 | 4379 | OMIM:145981 | Hypocalciuric hypercalcemia, familial, type II | . | | | 16 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 2 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 202 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 202 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | KL CL E G H | 9365 | 6344 | OMIM:617994 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3 | | | | 68 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | HP:0040283 - Occasional | | | 35 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 84 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | MAX CL E G H | 4149 | 6913 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 84 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 4 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 462 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | . | | | 462 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 462 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 1952 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2591 | Infantile myofibromatosis | HP:0040283 - Occasional | | | 144 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 544 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | PDGFRB CL E G H | 5159 | 8804 | ORPHA:2591 | Infantile myofibromatosis | HP:0040283 - Occasional | | | 28 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040282 - Frequent | | | | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | . | | | | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:156400 | Metaphyseal chondrodysplasia, Jansen type | . | | | 58 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | RET CL E G H | 5979 | 9967 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 572 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 304 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 55 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 237 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 147 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 129 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | SLC34A1 CL E G H | 6569 | 11019 | OMIM:616963 | HYPERCALCEMIA, INFANTILE, 2; HCINF2 | | | | 47 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | SLC5A1 CL E G H | 6523 | 11036 | ORPHA:35710 | Glucose-galactose malabsorption | HP:0040283 - Occasional | | | 74 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 131 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | TMEM127 CL E G H | 55654 | 26038 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 131 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:602080 | Paget disease of bone 2, early-onset | | | | 72 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | VHL CL E G H | 7428 | 12687 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 490 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0003072 | HP:0003072 | Hypercalcemia | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003072 | HP:0008250 | Infantile hypercalcemia | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 169 | | |
HP:0003072 | HP:0008250 | Infantile hypercalcemia | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0003072 | HP:0008250 | Infantile hypercalcemia | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040282 - Frequent | | | 169 | | |
HP:0003072 | HP:0008250 | Infantile hypercalcemia | 1 | CYP24A1 CL E G H | 1591 | 2602 | OMIM:143880 | Hypercalcemia, infantile, 1 | . | | | 73 | | |
HP:0003072 | HP:0008250 | Infantile hypercalcemia | 1 | GCM2 CL E G H | 9247 | 4198 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 51 | | |
HP:0003072 | HP:0008250 | Infantile hypercalcemia | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 462 | | |