Annotation Detail
Information
- Associated Genes
- GCK
- Associated Variants
-
GCK MUTATION
GCK MUTATION - Associated Disease
- diabetes mellitus
- Source Database
- DisGeNET
- Description
- Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
- Pubmed
- 25015100
- 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,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.0415940767333329
Drugs