Ellis-van creveld syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| 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, ClinGen | |||
| EVC2 | Causal | CTD, ClinVar, Disgenet, GenCC, HPO, ClinGen | ||||
| 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 |