GJC1, gap junction protein gamma 1, 10052

N. diseases: 26; N. variants: 1
Disease: Atrioventricular Block ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		0.010 GeneticVariation disease BEFREE The authors identified a connexin-45 (Cx45) mutation (p.R75H) in 2 unrelated families (a de novo French case and a 3-generation Japanese family) who presented with progressive AV block, which resulted in atrial standstill without ventricular conduction abnormalities. 28705318 2017