Annotation Detail
Information
- Associated Genes
- ABCC8
- Associated Variants
-
ABCC8 MUTATION
ABCC8 MUTATION - Associated Disease
- Diabetes, Autoimmune
- Source Database
- DisGeNET
- Description
- Activating mutations in the ABCC8 gene encoding the KATP channel subunit SUR1 cause β-cell dysfunction with non-autoimmune diabetes mellitus in neonates or infants.
- Pubmed
- 24941889
- Section of the abstract supporting the evidence
- BACKGROUND/AIMS
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs