Annotation Detail
Information
- Associated Genes
- GCK
- Associated Variants
-
GCK MUTATION
GCK MUTATION - Associated Disease
- Neonatal diabetes mellitus
- Source Database
- DisGeNET
- Description
- Homozygous mutations in GCK, EIF2AK3 and the distal enhancer region of PTF1A were the commonest causes of NDM in our cohort.
- Pubmed
- 25755231
- Section of the abstract supporting the evidence
- CONCLUSIONS
- Number of the section of the abstract supporting the evidence
- 4
- Number of the sentence supporting the evidence
- 13
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
Drugs