GJA5, gap junction protein alpha 5, 2702

N. diseases: 97; N. variants: 11
Disease: Tetralogy of Fallot ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.620 GeneticVariation disease BEFREE A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot. 22713807 2013
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.620 SusceptibilityMutation disease ORPHANET A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot. 22713807 2013
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.620 Biomarker disease BEFREE These small duplications encompassed a single gene in common, GJA5, and were enriched in cases of TOF in comparison to controls [OR = 10.7 (95% CI 1.8-64.3), P = 0.01]. 22199024 2012
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.620 Biomarker disease MGD High incidence of cardiac malformations in connexin40-deficient mice. 12842919 2003
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.620 Biomarker disease HPO