Short syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| SHORT syndrome | 3163, C0878684 | PIK3R1 | Causal Pathogenic evidence from ClinVar | 11062485, 16847462, 22351933, 23810378, 23810379, 23810382, 23980586, 24886349, 25133428, 25326637, 25488983, 26529633, 26633545, 26974159, 27766312, 28632845 | ClinVar |