SMAD7, SMAD family member 7, 4092

N. diseases: 269; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease BEFREE These findings delineate a novel mechanism by which Smad7 knockdown promotes CRC cell death. 28300830 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer. 25990418 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE SMAD7 rs4939827 variant contributes to colorectal cancer risk in Chinese population. 28467803 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASDB Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians. 24448986 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE Two recent genome-wide association studies (GWAS) identified three common variants in SMAD7 (rs4464148, rs4939827 and rs12953717) that confer modest susceptibility to colorectal cancer. 19357349 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. 29228715 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE SNP rs7229639 in the SMAD7 gene was found to be associated with CRC risk with an odds ratio (95% confidence interval) associated with the minor allele (A) of 1.22 (1.15-1.29) in the combined analysis of all 11 studies (p = 2.93 × 10(-11) ). 24448986 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASDB Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 24836286 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE In conclusion, our data suggest that SMAD7 rs4939827 and CHI3L1 rs4950928 SNPs have no significant association with CRC. 26779637 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 AlteredExpression disease BEFREE Consistently, knockdown of Smad7 associates with inactivation of eIF2α, lower CDC25A expression and diminished fraction of proliferating cells in human CRC explants, and reduces the number of intestinal tumors in Apc(min/+) mice. 24556688 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE As partial validation of our approach, a known CRC risk variant in SMAD7 (in both the TGF-β and WNT pathways: rs11874392) was associated with CRC risk in our data. 29986644 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE We found that two of the loci most strongly linked with colorectal cancer (CRC) risk, 8q24 (upstream of MYC) and 18q21 (in the intron of SMAD7), as well as 20q13 (in the intron of LAMA5), are tightly associated with the prognosis of rectal cancer patients. 29119627 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE The two stage association studies showed that missense variant rs3764482 (c. 83C>T; p. rs3764482" genes_norm="4092">S28F) in the gene SMAD7 was consistently and significantly associated with CRC risk. 28218435 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease BEFREE The low expression of IL17A caused by the Smad7 expression in tumor-infiltrating CD4(+) T cells enabled the TNF-α-mediated killing of cancer cells both in vitro and in vivo, thus indicating that the Smad7-mediated plastic effect on T-cell phenotype induces protection against colorectal cancer. 24480808 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease CTD_human We evaluated selected SNPs in three replication sample sets (7,473 cases, 5,984 controls) and identified three SNPs in SMAD7 (involved in TGF-beta and Wnt signaling) associated with CRC. 17934461 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease BEFREE Mutational analysis of TGF-beta type II receptor, Smad2, Smad3, Smad4, Smad6 and Smad7 genes in colorectal cancer. 12866583 2003
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE Among the European CRC-susceptibility SNPs, rs4939827 in SMAD7 was associated with a significant decreased risk of Korean CRC (age-/gender-adjusted odds ratio [95% confidence interval]: additive model, 0.67 [95% CI, 0.47-0.95]; dominant model, 0.59 [95% CI, 0.39-0.91]). rs4779584 and rs10795668 were associated with CRC risk in females and males, respectively. 23875689 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT Genome-wide association study of colorectal cancer in Hispanics. 27207650 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE SMAD7 rs11874392 presented consistently significant associations with a risk of CRC at both stages, with odds ratio = 1.41 (95% confidence interval = 1.21-1.63) using additive modes in combined analyses. 23275154 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASDB We evaluated selected SNPs in three replication sample sets (7,473 cases, 5,984 controls) and identified three SNPs in SMAD7 (involved in TGF-beta and Wnt signaling) associated with CRC. 17934461 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease BEFREE Our results, combined with previous studies, suggest that IL10, PSCA, IL1B, and SMAD7 are significantly correlated with CRC susceptibility in the Han Chinese population. 24557062 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. 18372901 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE Eight miRSNPs (rs1804191, rs397768, rs41116 in APC; rs1137918, s227091, rs4585 in ATM; rs712, rs1137282, rs61764370 in KRAS; rs8674 in PARP1 and rs16950113 in SMAD7) were tested for their association with CRC risk in a case-control study (1111 cases and 1469 healthy controls). 29048575 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE The SMAD7 gene and specifically the allele C could be protective for colorectal cancer. 29084532 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 24836286 2014