Encephalocraniocutaneous lipomatosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Encephalocraniocutaneous lipomatosis | 2396, C0406612 | FGFR1 | Causal Pathogenic evidence from ClinVar | 19224897, 23812909, 26942290, 28825856 | ClinVar |
| KRAS | Causal Pathogenic evidence from ClinVar | 26970110 | ClinVar |