Disease: DIABETES MELLITUS, PERMANENT NEONATAL ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 GeneticVariation UNIPROT Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. 16731833 2006
dbSNP: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 GeneticVariation UNIPROT Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. 16609879 2006
dbSNP: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 GeneticVariation UNIPROT KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. 15580558 2005
dbSNP: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 GeneticVariation UNIPROT Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. 15292329 2004
dbSNP: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 GeneticVariation UNIPROT Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. 15583126 2004
dbSNP: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 GeneticVariation UNIPROT Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. 15448106 2004
dbSNP: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 GeneticVariation UNIPROT Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. 15115830 2004
dbSNP: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 GeneticVariation UNIPROT Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. 15448107 2004
dbSNP: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		T 0.810 CausalMutation CLINVAR
dbSNP: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		A 0.810 CausalMutation CLINVAR