Pseudohypoparathyroidism
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Pseudohypoparathyroidism | C0033806 | GNAS | 17299070, 9506752, 21823526 |
| PDE4D | |||
| PRKAR1A | |||
| STX16 | |||
| PRMT7 | |||
| GNAS-AS1 | |||
| Pseudohypoparathyroidism type 1A | 79443 | GNAS | |
| Pseudohypoparathyroidism Type 1B | C2932715, 94089 | GNAS | 21836370 |
| STX16 | |||
| Pseudohypoparathyroidism Type 1C | C2932716, 79444 | GNAS | 28453643, 21488135 |
| Pseudohypoparathyroidism, Type Ia | C3494506 | GNAS | 8702665, 28453643, 12624854, 17299070, 9727013, 25802881, 23533243, 26633545, 21488135, 9159128, 27922245, 11450852, 9328353, 9506752, 21525160, 26267576, 11600516, 21823526, 7523385, 15817905, 8388883, 11092390 |
| PSEUDOHYPOPARATHYROIDISM, TYPE IB | C1864100 | GNAS | 9506752, 17299070, 21823526, 9328353, 28453643 |
| STX16 |