Gillespie syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Gillespie syndrome | C0431401 | ITPR1 | Causal Pathogenic evidence from ClinVar | 22986007, 27062503, 27108797, 27108798, 29169895, 29663667, 29925855 | ClinVar |
| PAX6 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 2855731, 7550230, 17148041, 17595013 | - |