Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Cys42Arg (p.C42R)
(
ENST00000339994.5,
ENST00000682764.1,
ENST00000682350.1,
ENST00000528731.1 )
KCNJ11 p.Cys42Arg (p.C42R) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- Neonatal diabetes mellitus
- Source Database
- DisGeNET
- Description
- The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.
- Pubmed
- 15784703
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.149315722184673
- Year of publication
- 2005
Drugs