GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: Truncus Arteriosus, Persistent ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		0.120 GeneticVariation disease BEFREE The aim of this study was to describe a new mutation in GATA6 in an infant with pancreatic agenesis, associated with truncus arteriosus and absent gallbladder. 24433315 2015
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		0.120 GeneticVariation disease BEFREE Two different GATA6 mutations were identified by systematic genetic analysis using DNA from patients with PTA. 19666519 2009
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		0.120 CausalMutation disease CLINVAR
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		0.120 Biomarker disease HPO