Cole-carpenter syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| COLE CARPENTER SYNDROME | CRTAP | Unknown | — | Disgenet | |
| P4HB | Unknown | — | CTD Disgenet | ||
| SEC24D | Unknown | — | CTD Disgenet | ||
| COLE-CARPENTER SYNDROME | CRTAP | Unknown | Orphanet | ||
| P4HB | Unknown | Disgenet Orphanet | |||
| SEC24D | Unknown | GWAS catalog Orphanet | |||
| COLE-CARPENTER SYNDROME 1 | P4HB | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| COLE-CARPENTER SYNDROME 2 | SEC24D | Causal | CTD ClinVar Disgenet HPO |