Deficiency of galactokinase
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Deficiency of galactokinase | C0268155 | GALK1 | Causal Pathogenic evidence from ClinVar | 7670469, 10521295, 10570908, 10790206, 11139256, 11231902, 11978883, 11978884, 12647253, 12694189, 15024738, 20405025, 21290184, 27604308 | ClinVar |
| GALE | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 25526675 | - | ||
| GALT | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 22773758 | - |