Wrinkly skin syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Wrinkly skin syndrome | 2834, C0406587 | ATP6V0A2 | Causal Pathogenic evidence from ClinVar | 18157129, 22773132, 27604308 | ClinVar |
| KMT2A | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |