GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: Bicuspid aortic valve ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.140 AlteredExpression disease BEFREE Furthermore, the mutation disrupted the synergistic transcriptional activation between NR2F2 and transcription factor GATA‑4, another transcription factor that is associated with BAV. 30720060 2019
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.140 GeneticVariation disease BEFREE This study associates additional genetic variants in GATA4 and GATA5 with BAV, supporting the implication of these genes in the development of this valvulopathy. 30229885 2018
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.140 AlteredExpression disease BEFREE Furthermore, the mutation disrupted the synergistic transcriptional activation between GATA4 and NKX2.5, another transcription factor responsible for BAV. 29325903 2018
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.140 AlteredExpression disease BEFREE Furthermore, the mutation disrupted the synergistic transcriptional activation between GATA6 and GATA4, another transcription factor causally linked to BAV. 29653232 2018
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.140 Biomarker disease HPO