Hypophosphatemic rickets
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Hypophosphatemic Rickets, X-Linked Dominant | C0733682 | CLCN5 | |
| PHEX | 29460029, 9768646, 31065622, 12727977, 9199930, 3414685, 10439971, 11004247, 11414762, 10737991, 19219621, 24684036, 26051471, 11468271, 9106524, 18775977, 9768674, 9097956 | ||
| PTCHD1-AS | 11468271, 12727977, 24684036, 9199930 | ||
| Hypophosphatemic Rickets | C1704375 | CLCN5 | |
| CTNS | |||
| DMP1 | |||
| FAH | |||
| FBN1 | |||
| HNF4A | |||
| HRAS | |||
| KRAS | |||
| NAB2 | |||
| NRAS | |||
| ENPP1 | |||
| PHEX | |||
| STAT6 | |||
| FGF23 | 19655082, 11062477 | ||
| SLC34A3 | |||
| Familial Hypophosphatemic Rickets | C3536983 | CLCN5 | |
| PHEX | 11414762, 18775977, 3414685 | ||
| VDR | 9284761 | ||
| PTCHD1-AS | |||
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | C4551495 | DMP1 | 17033621 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 | C2750078 | ENPP1 | 20137772, 20137773, 15605415, 25741938 |
| Autosomal dominant hypophosphatemic rickets | C0342642, 89937 | FGF23 | 11062477, 15590700, 16638743, 19655082, 11409890 |
| Autosomal recessive hypophosphatemic rickets | 289176 | DMP1 | |
| ENPP1 |