GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.040 Biomarker group BEFREE The deletion in four out of five cases with cardiac defect was distal to GATA6, suggesting an alternative mechanism other than haploinsufficiency of GATA6 as an underlying cause of cardiac malformations. 31390163 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.040 GeneticVariation group BEFREE The novel mutation described in this case extends the list of GATA6 mutations causing pancreatic agenesis and cardiac malformations. 24433315 2015
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.040 GeneticVariation group BEFREE Further screenings of GATA6 mutations in patients with various forms of diabetes and/or congenital heart disease with other visceral malformation may reveal the impact of GATA6 mutations on diabetes and congenital malformation. 24310933 2014
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.040 GeneticVariation group BEFREE The objective of this study was to determine the frequency of GATA6 sequence variants in a population of individuals with a spectrum of cardiac malformations. 20581743 2010