Annotation Detail
Information
- Associated Genes
- GCK
- Associated Variants
-
GCK MUTATION
GCK MUTATION - Associated Disease
- hyperglycemia
- Source Database
- DisGeNET
- Description
- Mutations in exons 10 and 11 of human glucokinase result in conformational variations in the active site of the structure contributing to poor substrate binding - explains hyperglycemia in type 2 diabetic patients.
- Pubmed
- 24720358
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.156274859901902
Drugs