Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease BEFREE We aimed to compare sulfonylurea therapy with insulin treatment in two sulfonylurea-sensitive individuals with a KCNJ11 mutation who had poorly controlled permanent neonatal diabetes mellitus. 29278452 2018
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease BEFREE The most common genetic cause of permanent neonatal diabetes mellitus is activating mutations in KCNJ11, which can usually be treated using oral sulfonylureas (SUs) instead of insulin injections, although some mutations are SU unresponsive. 27802092 2017
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease 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
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 Biomarker disease BEFREE Thirteen (43%) individuals with KCNJ11 -related NDM had treatment for or a diagnosis of ADHD compared to two (8%) of the sibling controls (P < 0.05). 27555491 2017
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 Biomarker disease GENOMICS_ENGLAND A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus. 27181099 2016
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease BEFREE Successful transition from insulin to sulphonyl urea (SU) agents in patients with PNDM due to KCNJ11 mutations and in patients with intermediate DEND syndrome due to KCNJ11 mutation have been reported in the literature. 27849623 2016
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease CLINVAR Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 27908292 2016
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GermlineCausalMutation disease ORPHANET A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus. 24468099 2014
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease BEFREE A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus. 24468099 2014
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease BEFREE We describe a patient with PNDM who had no neurological finding although she was determined to have a novel mutation (p.Q52L) in the same residue of the KCNJ11 as in the previously reported cases with DEND syndrome. 24150202 2014
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease BEFREE Sulfonylureas (SUs) are effective at controlling glycemia in permanent neonatal diabetes mellitus (PNDM) caused by KCNJ11 (Kir6.2) mutations. 25231897 2014
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GermlineCausalMutation disease ORPHANET We describe a patient with PNDM who had no neurological finding although she was determined to have a novel mutation (p.Q52L) in the same residue of the KCNJ11 as in the previously reported cases with DEND syndrome. 24150202 2014
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease 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
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease BEFREE Genetic defects have been identified in∼60% of cases, with mutations in ABCC8, KCNJ11 and INS being the most frequent causes of PNDM. 23562494 2013
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease BEFREE Mutations in KATP channel genes (KCNJ11, ABCC8) and the insulin gene (INS) are the most common causes of PNDM. 23050777 2013
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197 2013
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527 2013
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease BEFREE We have verified a lack of clinical response for both glycemic control and neurological features in an infant with permanent neonatal diabetes mellitus and DEND syndrome due to a V59A mutation in the KCNJ11 gene. 23382304 2013
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease CLINVAR Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels. 22311976 2012
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease BEFREE Permanent neonatal diabetes mellitus (PNDM) in European population has an incidence of at least 1 in 260 000 live births and is most commonly due to mutations in KCNJ11 and ABCC8. 22060631 2012
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease BEFREE Recessive EIF2AK3 gene mutations were the commonest cause of PNDM in the Arab cohort (22.7%) followed by INS (12.5%), and KCNJ11 and GCK (5.7% each), whereas K(ATP) channel mutations were the commonest cause (29.9%) in the British cohort. 22859427 2012
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease BEFREE Gain-of-function mutations of KCNJ11 can cause permanent neonatal diabetes mellitus, but only rarely after 6 months of age. 22694282 2012
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GeneticVariation disease BEFREE We describe a 12-year-old Portuguese girl with PNDM due to the previously reported R201C mutation in the KCNJ11 gene. 22768671 2012
DIABETES MELLITUS, PERMANENT NEONATAL
1.000 GermlineCausalMutation disease ORPHANET The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. 22498247 2012