×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
CLINVAR
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.
27908292
2016
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
CLINVAR
Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.
25639667
2016
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
CLINVAR
Long-term follow-up and mutation analysis of 27 chinese cases of congenital hyperinsulinism.
24434300
2014
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
CLINVAR
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
23345197
2013
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
CLINVAR
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
23275527
2013
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
CLINVAR
Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels.
22311976
2012
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
CLINVAR
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.
21422196
2011
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
CLINVAR
Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Geneva, Switzerland. August 30-September 2, 2011.
21812132
2011
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
CLINVAR
Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation.
20589481
2010
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
CLINVAR
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
20685672
2010
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
CLINVAR
Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.
20049716
2009
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
CLINVAR
Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism.
18250167
2008
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
CLINVAR
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
17446535
2007
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
UNIPROT
Relapsing diabetes can result from moderately activating mutations in KCNJ11.
15718250
2005
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
UNIPROT
The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.
15784703
2005
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
CLINVAR
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.
15562009
2005
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
CLINVAR
Molecular basis for Kir6.2 channel inhibition by adenine nucleotides.
12524280
2003
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
GeneticVariation
disease
CLINVAR
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.
11395395
2001
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
CausalMutation
disease
CLINVAR
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
0.700
Biomarker
disease
CTD_human