Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Maturity onset diabetes mellitus in young
0.340 GeneticVariation disease BEFREE The majority of patients (27/33, 81.8%) had variants in MODY‑related genes: GCK (n=19), HNF1A (n=2), PAX4 (n=1), ABCC8 (n=1), KCNJ11 (n=1), GCK+HNF1A (n=1), GCK+BLK (n=1) and GCK+BLK+WFS1 (n=1). 31638168 2019
Maturity onset diabetes mellitus in young
0.340 GeneticVariation disease BEFREE However, recent analyses have also demonstrated ABCC8 gene mutations in patients with monogenic diabetes (maturity onset diabetes of the young, MODY), with milder clinical phenotypes and later onset of hyperglycemia. 30734462 2019
Maturity onset diabetes mellitus in young
0.340 GeneticVariation disease BEFREE We found MODY 3 (HNF1A; 7.2%) to be most frequently mutated followed by MODY 12 (ABCC8; 3.3%). 29439679 2018
Maturity onset diabetes mellitus in young
0.340 GeneticVariation disease BEFREE Glucokinase (GCK)-MODY is due to mutations in the glucokinase gene, 3 MODY subtypes are associated with mutations in the hepatocyte nuclear factor (HNF) transcription factors, and 2 others with mutations in ABCC8 and KCNJ11, which encode the subunits of the ATP-dependent potassium channel in pancreatic beta cells. 27103109 2016
Maturity onset diabetes mellitus in young
0.340 GermlineCausalMutation disease ORPHANET Heterozygous ABCC8 mutations are a cause of MODY. 21989597 2012