Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
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.Ile182Val (p.I182V) ( ENST00000528731.1, ENST00000339994.5, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Val59Met (p.V59M) ( ENST00000339994.5, ENST00000682350.1, ENST00000682764.1, ENST00000528731.1 )
KCNJ11 p.Gln52Arg (p.Q52R) ( ENST00000339994.5, ENST00000682764.1, ENST00000682350.1, ENST00000528731.1 )
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.Ile182Val (p.I182V) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Val59Met (p.V59M) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Gln52Arg (p.Q52R) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- Neonatal diabetes mellitus
- Source Database
- DisGeNET
- Description
- Here we characterize the channel properties of Kir6.2 mutations that underlie transient neonatal diabetes (I182V) or more severe forms of permanent neonatal diabetes (V59M, Q52R, and I296L).
- Pubmed
- 16123353
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.149315722184673
- Year of publication
- 2005
Drugs