Udpglucose 4-epimerase deficiency disease
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| UDPglucose 4-epimerase deficiency disease | C0751161 | GALE | Causal Pathogenic evidence from ClinVar | 9326324, 9538513, 9973283, 10086948, 11117433, 11279193, 11903335, 15639193, 16301867, 16302980, 18188677, 19250319, 23644136, 25526675 | ClinVar |
| GALK1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 7670469 | - | ||
| GALT | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 22773758 | - |