Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193929337
rs193929337
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel. 28842488 2017
dbSNP: rs80356611
rs80356611
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel. 28842488 2017
dbSNP: rs80356617
rs80356617
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel. 28842488 2017
dbSNP: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel. 28842488 2017
dbSNP: rs80356624
rs80356624
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel. 28842488 2017
dbSNP: rs80356624
rs80356624
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation BEFREE Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal diabetes mellitus due to an R201H mutation in the KCNJ11 gene: a case report. 23434183 2013
dbSNP: rs193929337
rs193929337
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms. 20022885 2010
dbSNP: rs80356611
rs80356611
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms. 20022885 2010
dbSNP: rs80356617
rs80356617
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms. 20022885 2010
dbSNP: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms. 20022885 2010
dbSNP: rs80356624
rs80356624
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms. 20022885 2010
dbSNP: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation BEFREE We concluded that C166Y mutation was associated with a form of PNDM insensitive to glibenclamide. 19169493 2008
dbSNP: rs193929337
rs193929337
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. 17652641 2007
dbSNP: rs193929337
rs193929337
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit. 17855752 2007
dbSNP: rs193929337
rs193929337
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. 17213273 2007
dbSNP: rs80356611
rs80356611
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit. 17855752 2007
dbSNP: rs80356611
rs80356611
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. 17652641 2007
dbSNP: rs80356611
rs80356611
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. 17213273 2007
dbSNP: rs80356617
rs80356617
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. 17652641 2007
dbSNP: rs80356617
rs80356617
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit. 17855752 2007
dbSNP: rs80356617
rs80356617
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. 17213273 2007
dbSNP: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit. 17855752 2007
dbSNP: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. 17213273 2007
dbSNP: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. 17652641 2007
dbSNP: rs80356624
rs80356624
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. 17213273 2007