Cednik syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CEDNIK syndrome | 66631 | SNAP29 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | C1836033 | SNAP29 | Causal Pathogenic evidence from ClinVar | 15968592, 21073448, 25958742 | ClinVar |
| PI4KA | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |