Annotation Detail
Information
- Associated Genes
- GCK
- Associated Variants
-
GCK MUTATION
GCK MUTATION - Associated Disease
- hypoglycemia
- Source Database
- DisGeNET
- Description
- Biochemical and structural analysis of this loop variant and GCK variants associated with hyperinsulinemic hypoglycemia reveal two distinct mechanisms of enzyme activation.
- Pubmed
- 26283387
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 5
- Original source reporting the Gene Disease association
- BeFree,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.00997733591851466
Drugs