Ellis-van creveld syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| ELLIS VAN CREVELD SYNDROME | DYNC2LI1 | Unknown | Orphanet | ||
| EVC | Unknown | Orphanet | |||
| EVC2 | Unknown | Orphanet | |||
| GLI1 | Unknown | Orphanet | |||
| PRKACA | Unknown | Orphanet | |||
| PRKACB | Unknown | Orphanet | |||
| ELLIS-VAN CREVELD SYNDROME | EVC | Causal | — | CTD ClinVar Disgenet GenCC HPO | |
| EVC2 | Causal | — | CTD ClinVar Disgenet GenCC HPO | ||
| CCDC39 | Unknown | — | Disgenet | ||
| DYNC2LI1 | Unknown | Disgenet GWAS catalog | |||
| GLI1 | Unknown | Disgenet | |||
| PRKACA | Unknown | Disgenet HPO | |||
| PRKACB | Unknown | Disgenet GWAS catalog | |||
| TRAF3IP1 | Unknown | — | Disgenet | ||
| WDR35 | Unknown | — | Disgenet |