Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
INS MUTATION
INS 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
- Impaired glucose tolerance
- Source Database
- DisGeNET
- Description
- We conclude that the lysine variant in KCNJ11 E23K leads to diminished insulin secretion in individuals with IGT.
- Pubmed
- 17259403
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.167783701007798
- Year of publication
- 2007
Drugs