GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: Conotruncal defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.020 Biomarker disease BEFREE Here GATA6 gene was screened in 542 patients with CTDs using targeted sequencing.Variant frequency was 2.0% (11/542). 29101065 2018
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.020 GeneticVariation disease BEFREE The current study presents two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects and provides novel insights into the pathogenesis of this disease. 24841381 2014