SMAD2, SMAD family member 2, 4087

N. diseases: 289; N. variants: 8
Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044882
rs797044882
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections. 26247899 2015
dbSNP: rs797044882
rs797044882
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR De novo mutations in histone-modifying genes in congenital heart disease. 23665959 2013
dbSNP: rs797044882
rs797044882
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Nodal signaling uses activin and transforming growth factor-beta receptor-regulated Smads. 11024047 2001
dbSNP: rs797044882
rs797044882
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Dominant-negative Smad2 mutants inhibit activin/Vg1 signaling and disrupt axis formation in Xenopus. 10068469 1999