GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES ×
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: C4012454
Disease:
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.800 GeneticVariation UNIPROT GATA6 haploinsufficiency causes pancreatic agenesis in humans. 22158542 2011
dbSNP: rs387906813
rs387906813
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C4012454
Disease:
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		G 0.800 CausalMutation CLINVAR