Hyperparathyroidism
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Hyperparathyroidism, Secondary | C0020503 | ACP5 | 22373954, 21985997 |
| ALPL | 22373954 | ||
| CRP | 21350317 | ||
| CYP27B1 | |||
| IL6 | 21350317 | ||
| PTH | 21350317, 22118402, 22373954 | ||
| VDR | |||
| CYP2R1 | |||
| Hyperparathyroidism | C0020502 | ACTG2 | |
| CCND1 | 21541686 | ||
| CASR | 9011580, 11589681 | ||
| CDKN1A | |||
| CDKN1B | |||
| CDKN2B | |||
| CDKN2C | |||
| FOXI1 | |||
| GNAS | |||
| KCNJ10 | |||
| MEN1 | |||
| OCRL | |||
| SLC26A4 | |||
| PTH1R | 11014383 | ||
| RET | |||
| VDR | |||
| CDC73 | |||
| Hyperparathyroidism, Primary | C0221002 | CASR | |
| CDKN1B | |||
| AP2S1 | |||
| GNA11 | |||
| MEN1 | |||
| PTH | |||
| GCM2 | |||
| CDC73 | |||
| HYPERPARATHYROIDISM, NEONATAL SEVERE | C1832615 | CASR | 17555508, 15572418, 17048213, 8675635, 28740527, 8878438, 22620673, 27434672, 14985373, 24854525, 9253359 |
| TRPV6 | 29861107 | ||
| Familial Isolated Hyperparathyroidism | C4551961, 99879 | CASR | 28740527 |
| MEN1 | 10664521, 25162666, 9792884, 12699448 | ||
| GCM2 | 27745835 | ||
| CDC73 | 15531515 | ||
| HYPERPARATHYROIDISM 4 | C4479229 | GCM2 | 27745835, 29199197 |
| HYPERPARATHYROIDISM 1 | C1840402 | CDC73 | 12960210, 12434154, 16487440, 15632063, 28740527, 18755853 |
| Neonatal severe primary hyperparathyroidism | 417 | TRPV6 | |
| CASR |