Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Glu322Lys (p.E322K)
(
ENST00000528731.1,
ENST00000682350.1,
ENST00000682764.1,
ENST00000339994.5 )
KCNJ11 p.Lys170Arg (p.K170R) ( ENST00000682350.1, ENST00000682764.1, ENST00000339994.5, ENST00000528731.1 )
KCNJ11 p.Glu322Lys (p.E322K) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Lys170Arg (p.K170R) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- Neonatal diabetes mellitus
- Source Database
- DisGeNET
- Description
- Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.
- Pubmed
- 17919178
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.149315722184673
- Year of publication
- 2007
Drugs