Congenital ichthyosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Collodion Fetus | C3543867 | ABCA12 | Causal Pathogenic evidence from ClinVar | 16675967 | ClinVar |
| ALOX12B | Causal Pathogenic evidence from ClinVar | 21739938 | ClinVar | ||
| ALOXE3 | Causal Pathogenic evidence from ClinVar | 21739938 | ClinVar | ||
| TGM1 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| Congenital ichthyosis | C0020758 | ABCA12 | Causal Pathogenic evidence from ClinVar | 16675967 | ClinVar |
| ALOX12B | Causal Pathogenic evidence from ClinVar | 21739938 | ClinVar | ||
| ALOXE3 | Causal Pathogenic evidence from ClinVar | 21739938 | ClinVar | ||
| PNPLA1 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| SDR9C7 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| TGM1 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12 | C4310621 | CASP14 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |