GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: Congenital diaphragmatic hernia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs180765750
rs180765750 		1.000 0.080 8 11750175 missense variant G/A snv
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2013 2013