Cole carpenter syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Cole Carpenter syndrome | C1862178 | P4HB | Causal Pathogenic evidence from ClinVar | 25683117 | ClinVar |
| SEC24D | Causal Pathogenic evidence from ClinVar | 25683121 | ClinVar | ||
| Cole-Carpenter syndrome | 2050 | P4HB | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| SEC24D | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| COLE-CARPENTER SYNDROME 1 | C4317154 | P4HB | Causal Pathogenic evidence from ClinVar | 25683117, 29384951 | ClinVar |
| COLE-CARPENTER SYNDROME 2 | C4225382 | SEC24D | Causal Pathogenic evidence from ClinVar | 25683121, 27942778 | ClinVar |