Isolated focal cortical dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Isolated focal cortical dysplasia type IIa | 269001 | MTOR | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| TSC2 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| Isolated focal cortical dysplasia type IIb | 269008 | MTOR | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| TSC1 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| TSC2 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| Isolated focal cortical dysplasia type Ia | 268973 | SLC35A2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |