Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 MUTATION
KCNJ11 MUTATION
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000528731.1, ENST00000339994.5, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- congestive heart failure
- Source Database
- DisGeNET
- Description
- The Kir6.2 E23K polymorphism in DCM patients of Han ethnicity may increase the risk of negative outcomes such as congestive heart failure and sudden cardiac death by affecting LVEDD and LAD.
- Pubmed
- 24222218
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2014
Drugs