Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.020 GeneticVariation disease BEFREE In the past 6 years, additional pathways involved in PAH susceptibility have been described through the identification of deleterious genetic variants in potassium channels (KCNK3 and ABCC8) and transcription factors (TBX4 and SOX17), among others. 31406341 2020
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.020 GeneticVariation disease BEFREE We identified a de novo novel heterozygous predicted deleterious missense variant c.G2873A (p.R958H) in ABCC8 in a child with idiopathic PAH. 30354297 2018