Timothy syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Timothy syndrome | 65283, C1832916 | CACNA1C | Causal Pathogenic evidence from ClinVar | 15454078, 15863612, 24093767, 24728418, 25260352, 26253506, 28371864, 29697308 | ClinVar |