GATA5, GATA binding protein 5, 140628

N. diseases: 101; N. variants: 12
Disease: Bicuspid aortic valve ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41305803
rs41305803
Entrez Id: 140628
Gene Symbol: GATA5
GATA5
CUI: C0149630
Disease:
Bicuspid aortic valve 		0.010 GeneticVariation BEFREE In addition, a common polymorphism in GATA5 (p.Asp203=, rs41305803) is associated with BAV showing a protective effect in carriers of the minor allele (OR [95%CI] = 0.45[0.25-0.81]; P = 0.004). 30229885 2018