GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906813
rs387906813
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C1857586
Disease:
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 GeneticVariation UNIPROT GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. 19666519 2009