Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
0.700 GeneticVariation disease CLINVAR Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 27908292 2016
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
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
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
0.700 GeneticVariation disease CLINVAR Long-term follow-up and mutation analysis of 27 chinese cases of congenital hyperinsulinism. 24434300 2014
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
0.700 GeneticVariation disease CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197 2013
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
0.700 GeneticVariation disease CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527 2013
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
0.700 GeneticVariation disease CLINVAR Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels. 22311976 2012
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
0.700 GeneticVariation disease CLINVAR Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. 21422196 2011
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
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
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
0.700 GeneticVariation disease CLINVAR Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation. 20589481 2010
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
0.700 GeneticVariation disease CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672 2010
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
0.700 GeneticVariation disease CLINVAR Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism. 20049716 2009
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
0.700 GeneticVariation disease CLINVAR Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism. 18250167 2008
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
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
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
0.700 GeneticVariation disease UNIPROT Relapsing diabetes can result from moderately activating mutations in KCNJ11. 15718250 2005
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
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
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
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
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
0.700 GeneticVariation disease CLINVAR Molecular basis for Kir6.2 channel inhibition by adenine nucleotides. 12524280 2003
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
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
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
0.700 CausalMutation disease CLINVAR
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
0.700 Biomarker disease CTD_human
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND