GATA5, GATA binding protein 5, 140628

N. diseases: 101; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
0.010 GeneticVariation group BEFREE In addition to demonstrating the pathogenicity of identified mutations, our findings show that GATA5 mutations, in addition to heart diseases, can result in congenital abnormalities of the female genitourinary tract in humans. 28180938 2017