Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Gly334Asp (p.G334D)
(
ENST00000528731.1,
ENST00000339994.5,
ENST00000682764.1,
ENST00000682350.1 )
KCNJ11 p.Ile296Val (p.I296V) ( ENST00000339994.5, ENST00000682764.1, ENST00000682350.1, ENST00000528731.1 )
KCNJ11 p.Ile296Leu (p.I296L) ( ENST00000339994.5, ENST00000682350.1, ENST00000682764.1, ENST00000528731.1 )
KCNJ11 p.Val59Met (p.V59M) ( ENST00000339994.5, ENST00000682350.1, ENST00000682764.1, ENST00000528731.1 )
KCNJ11 p.Gly334Asp (p.G334D) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Ile296Val (p.I296V) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Ile296Leu (p.I296L) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Val59Met (p.V59M) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- Neonatal diabetes mellitus
- Source Database
- DisGeNET
- Description
- In the absence of MgATP, gliclazide block was similar for wild-type channels and those carrying the Kir6.2 ND mutations R210C, G334D, I296L, and V59M.
- Pubmed
- 23835339
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.149315722184673
- Year of publication
- 2013
Drugs