Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Gly334Asp (p.G334D)
(
ENST00000528731.1,
ENST00000339994.5,
ENST00000682764.1,
ENST00000682350.1 )
KCNJ11 p.Phe333Ile (p.F333I) ( ENST00000339994.5, ENST00000682764.1, ENST00000682350.1, ENST00000528731.1 )
KCNJ11 p.Tyr330Cys (p.Y330C) ( ENST00000528731.1, ENST00000339994.5, ENST00000682764.1, ENST00000682350.1 )
KCNJ11 p.Glu322Lys (p.E322K) ( ENST00000528731.1, ENST00000682350.1, ENST00000682764.1, ENST00000339994.5 )
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.Val252Ala (p.V252A) ( ENST00000339994.5, ENST00000682764.1, ENST00000682350.1, ENST00000528731.1 )
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.Arg201Cys (p.R201C) ( ENST00000528731.1, ENST00000682764.1, ENST00000682350.1, ENST00000339994.5 )
KCNJ11 p.Ile182Val (p.I182V) ( ENST00000528731.1, ENST00000339994.5, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Lys170Asn (p.K170N) ( ENST00000528731.1, ENST00000682764.1, ENST00000682350.1, ENST00000339994.5 )
KCNJ11 p.Lys170Arg (p.K170R) ( ENST00000682350.1, ENST00000682764.1, ENST00000339994.5, ENST00000528731.1 )
KCNJ11 p.Ile167Leu (p.I167L) ( ENST00000528731.1, ENST00000339994.5, ENST00000682764.1, ENST00000682350.1 )
KCNJ11 p.Cys166Phe (p.C166F) ( ENST00000682350.1, ENST00000682764.1, ENST00000339994.5, ENST00000528731.1 )
KCNJ11 p.Cys166Tyr (p.C166Y) ( ENST00000528731.1, ENST00000339994.5, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Val59Gly (p.V59G) ( ENST00000528731.1, ENST00000682350.1, ENST00000682764.1, ENST00000339994.5 )
KCNJ11 p.Val59Met (p.V59M) ( ENST00000339994.5, ENST00000682350.1, ENST00000682764.1, ENST00000528731.1 )
KCNJ11 p.Gly53Asp (p.G53D) ( ENST00000528731.1, ENST00000682764.1, ENST00000682350.1, ENST00000339994.5 )
KCNJ11 p.Gln52Arg (p.Q52R) ( ENST00000339994.5, ENST00000682764.1, ENST00000682350.1, ENST00000528731.1 )
KCNJ11 p.Arg50Pro (p.R50P) ( ENST00000682350.1, ENST00000682764.1, ENST00000339994.5, ENST00000528731.1 )
KCNJ11 p.Arg50Gln (p.R50Q) ( ENST00000339994.5, ENST00000682350.1, ENST00000682764.1, ENST00000528731.1 )
KCNJ11 p.Cys42Arg (p.C42R) ( ENST00000339994.5, ENST00000682764.1, ENST00000682350.1, ENST00000528731.1 )
KCNJ11 p.Phe35Val (p.F35V) ( ENST00000682350.1, ENST00000682764.1, ENST00000339994.5, ENST00000528731.1 )
KCNJ11 p.Phe35Leu (p.F35L) ( ENST00000339994.5, ENST00000682764.1, ENST00000682350.1, ENST00000528731.1 )
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000528731.1, ENST00000339994.5, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Gly334Asp (p.G334D) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Phe333Ile (p.F333I) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Tyr330Cys (p.Y330C) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Glu322Lys (p.E322K) ( 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.Val252Ala (p.V252A) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
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.Arg201Cys (p.R201C) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Ile182Val (p.I182V) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Lys170Asn (p.K170N) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Lys170Arg (p.K170R) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Ile167Leu (p.I167L) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Cys166Phe (p.C166F) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Cys166Tyr (p.C166Y) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Val59Gly (p.V59G) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Val59Met (p.V59M) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Gly53Asp (p.G53D) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Gln52Arg (p.Q52R) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Arg50Pro (p.R50P) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Arg50Gln (p.R50Q) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Cys42Arg (p.C42R) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Phe35Val (p.F35V) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Phe35Leu (p.F35L) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- DIABETES MELLITUS, PERMANENT NEONATAL
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.56868613990657
- Year of publication
- NA
Drugs