Chudley-mccullough syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Chudley-McCullough syndrome | 314597 | GPSM2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Chudley-Mccullough syndrome | C1858695 | GPSM2 | Causal Pathogenic evidence from ClinVar | 8973305, 20602914, 21348867, 22578326, 23494849, 26662512, 27180139, 28387217 | ClinVar |
| AKNAD1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |