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: rs387906783
rs387906783
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 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: rs387906783
rs387906783
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 GeneticVariation UNIPROT A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. 17652641 2007
dbSNP: rs387906783
rs387906783
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 GeneticVariation UNIPROT Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. 15115830 2004
dbSNP: rs387906783
rs387906783
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 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: rs387906783
rs387906783
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 GeneticVariation UNIPROT Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms. 20022885 2010
dbSNP: rs387906783
rs387906783
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 GeneticVariation UNIPROT KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. 15580558 2005
dbSNP: rs387906783
rs387906783
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 GeneticVariation UNIPROT Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. 15448107 2004
dbSNP: rs387906783
rs387906783
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 GeneticVariation UNIPROT Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. 15583126 2004
dbSNP: rs387906783
rs387906783
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 GeneticVariation UNIPROT Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. 16731833 2006
dbSNP: rs387906783
rs387906783
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 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: rs387906783
rs387906783
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 GeneticVariation UNIPROT Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. 15448106 2004
dbSNP: rs387906783
rs387906783
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 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: rs387906783
rs387906783
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 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