GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: Congenital diaphragmatic hernia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555628863
rs1555628863
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0235833
Disease:
Congenital diaphragmatic hernia 		C 0.700 CausalMutation CLINVAR Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. 24385578 2014