Annotation Detail
Information
- Associated Genes
- GCK
- Associated Variants
-
GCK MUTATION
GCK MUTATION - Associated Disease
- diabetes mellitus
- Source Database
- DisGeNET
- Description
- In humans, activating GCK mutations cause familial hyperinsulinaemic hypoglycaemia (GCK-HH), leading to keen interest in the potential of small-molecule glucokinase activators (GKAs) as treatments for diabetes mellitus.
- Pubmed
- 24890200
- Section of the abstract supporting the evidence
- CONTEXT
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.0415940767333329
Drugs