Cohen syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Cohen syndrome | 193, C0265223 | VPS13B | Causal Pathogenic evidence from ClinVar | 12730828, 15141358, 15154116, 15173253, 15211651, 15691367, 16648375, 16917849, 17786118, 17990063, 19006247, 20461111, 20656880, 20683995, 21659346, 21865173, 22382802, 22527104, 22855652, 23188044, 23352163, 24311531, 24334764, 25271213, 25356970, 25472526, 25525159, 26104215, 26395554, 26938784, 27533158 | ClinVar |
| COX6C | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 15141358, 19006247, 20461111, 27533158 | - |