Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
0.170 Biomarker disease BEFREE Patients with KCNJ11-related diabetes without global developmental delay had significant differences compared with sibling controls on a range of assessments including IQ, measures of academic achievement and executive function. 27223594 2016
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
0.170 GeneticVariation disease BEFREE Neonatal diabetes mellitus (NDM) due to KCNJ11 gene mutation presents with diabetes in the first 3 months of life and sometimes with neurological features like developmental delay, muscle weakness and epilepsy. 21210267 2011
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
0.170 GeneticVariation disease BEFREE In contrast, two patients with the KCNJ11 mutations manifested epilepsy and developmental delay. 17635943 2007
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
0.170 GeneticVariation disease BEFREE We report the response to sulfonylurea treatment in a boy with neonatal diabetes and marked developmental delay resulting from the KCNJ11 mutation V59M. 17047922 2006
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
0.170 GeneticVariation disease BEFREE In addition to diabetes, some KCNJ11 mutations also result in marked developmental delay and epilepsy. 15718250 2005
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
0.170 GeneticVariation disease BEFREE Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M). 16087682 2005
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
0.170 GeneticVariation disease BEFREE We conclude that KCNJ11 mutations are a common cause of PNDM either in isolation or associated with developmental delay. 15580558 2005
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
0.170 Biomarker disease HPO