SMAD2, SMAD family member 2, 4087

N. diseases: 289; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72661148
rs72661148
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C1314691
Disease:
Age at menarche 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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
dbSNP: rs13381619
rs13381619
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C0009324
Disease:
Ulcerative Colitis 		0.010 GeneticVariation BEFREE Four SNPs (rs13381619, rs9955626, rs1792658, and rs1792671) within SMAD2, one SNP within SMAD3 (rs41473580), two SNPs within SMAD4 (rs7229678 and rs9304407), and one SNP within SMAD7 (rs12956924) were significantly associated with susceptibility only to UC. rs13381619 within SMAD2, rs4147358 within SMAD3, rs9304407 within SMAD4, and rs12956924 within SMAD7 exhibited the strongest association (p <  0.001, p =  0.021, p =  0.005, and p =  0.001, respectively). 30653987 2019
dbSNP: rs1792658
rs1792658
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C0009324
Disease:
Ulcerative Colitis 		0.010 GeneticVariation BEFREE Four SNPs (rs13381619, rs9955626, rs1792658, and rs1792671) within SMAD2, one SNP within SMAD3 (rs41473580), two SNPs within SMAD4 (rs7229678 and rs9304407), and one SNP within SMAD7 (rs12956924) were significantly associated with susceptibility only to UC. rs13381619 within SMAD2, rs4147358 within SMAD3, rs9304407 within SMAD4, and rs12956924 within SMAD7 exhibited the strongest association (p <  0.001, p =  0.021, p =  0.005, and p =  0.001, respectively). 30653987 2019
dbSNP: rs1792671
rs1792671
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C0009324
Disease:
Ulcerative Colitis 		0.010 GeneticVariation BEFREE Four SNPs (rs13381619, rs9955626, rs1792658, and rs1792671) within SMAD2, one SNP within SMAD3 (rs41473580), two SNPs within SMAD4 (rs7229678 and rs9304407), and one SNP within SMAD7 (rs12956924) were significantly associated with susceptibility only to UC. rs13381619 within SMAD2, rs4147358 within SMAD3, rs9304407 within SMAD4, and rs12956924 within SMAD7 exhibited the strongest association (p <  0.001, p =  0.021, p =  0.005, and p =  0.001, respectively). 30653987 2019
dbSNP: rs9955626
rs9955626
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C0009324
Disease:
Ulcerative Colitis 		0.010 GeneticVariation BEFREE Four SNPs (rs13381619, rs9955626, rs1792658, and rs1792671) within SMAD2, one SNP within SMAD3 (rs41473580), two SNPs within SMAD4 (rs7229678 and rs9304407), and one SNP within SMAD7 (rs12956924) were significantly associated with susceptibility only to UC. rs13381619 within SMAD2, rs4147358 within SMAD3, rs9304407 within SMAD4, and rs12956924 within SMAD7 exhibited the strongest association (p <  0.001, p =  0.021, p =  0.005, and p =  0.001, respectively). 30653987 2019
dbSNP: rs11082639
rs11082639
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C0524620
Disease:
Metabolic Syndrome X 		0.010 GeneticVariation BEFREE We also found that an interaction between the SMAD2 rs11082639 and TGFBR2 rs3773651 SNPs influenced MetS. 29051557 2017
dbSNP: rs781521972
rs781521972
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C0239946
Disease:
Fibrosis, Liver 		0.010 GeneticVariation BEFREE Overexpression of HNRNPA1 (or its T51A mutant) in HSCs of mice inhibited liver fibrosis. 26435271 2016
dbSNP: rs1792658
rs1792658
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C0431109
Disease:
Choroid Plexus Carcinoma 		0.010 GeneticVariation BEFREE Robust case-pseudocontrol (CPC) conditional logistic regression analysis showed associations between CL and SNPs at CTGF (SNP rs6918698; CC genotype; OR 1.67; 95%CI 1.10-2.54; P=0.016), TGFBR2 (rs1962859; OR 1.50; 95%CI 1.12-1.99; P=0.005), SMAD2 (rs1792658; OR 1.57; 95%CI 1.04-2.38; P=0.03), SMAD7 (rs4464148; AA genotype; OR 2.80; 95%CI 1.00-7.87; P=0.05) and FLII (rs2071242; OR 1.60; 95%CI 1.14-2.24; P=0.005), and between ML and SNPs at SMAD3 (rs1465841; OR 2.15; 95%CI 1.13-4.07; P=0.018) and SMAD7 (rs2337107; TT genotype; OR 3.70; 95%CI 1.27-10.7; P=0.016). 22554650 2012