Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Arg201Leu (p.R201L)
(
ENST00000528731.1,
ENST00000339994.5,
ENST00000682350.1,
ENST00000682764.1 )
KCNJ11 p.Arg201His (p.R201H) ( ENST00000682764.1, ENST00000682350.1, ENST00000339994.5, ENST00000528731.1 )
KCNJ11 p.Gly53Arg (p.G53R) ( ENST00000528731.1, ENST00000339994.5, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Gly53Ser (p.G53S) ( ENST00000528731.1, ENST00000682350.1, ENST00000682764.1, ENST00000339994.5 )
KCNJ11 p.Cys42Arg (p.C42R) ( ENST00000339994.5, ENST00000682764.1, ENST00000682350.1, ENST00000528731.1 )
KCNJ11 p.Arg201Leu (p.R201L) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Arg201His (p.R201H) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Gly53Arg (p.G53R) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Gly53Ser (p.G53S) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Cys42Arg (p.C42R) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs