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 GeneticVariation disease GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE When assessed by a priori defined functional pathways, tumor growth factor β (TGFβ) signaling was associated with CRC risk (<i>P</i> ≤ 0.001), with most statistically significant genes being <i>SMAD7 (P<sub>BH</sub></i> = 0.008) and <i>SMAD3 (P<sub>BH</sub></i> = 0.008), and 18 SNPs in the vitamin D receptor (VDR) binding sites (<i>P</i> = 0.036). 31434255 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer. 30529582 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease BEFREE In this review, we summarize the available evidences about the role of Smad7 in both sporadic and colitis-associated CRC. 31052449 2019
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 Single Nucleotide Polymorphism in SMAD7 and CHI3L1 and Colorectal Cancer Risk. 30498395 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease BEFREE EGFR, SMAD7, and TGFBR2 are associated with CRC risk in patients with Lynch syndrome. 30275229 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. 30104761 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE As regards the polymorphism of SMAD7, we found that CC (wild) genotype has high percentage in controls compared to CRC cases (36.1% vs 15.1%). 28374902 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12. 29471430 2018
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 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 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 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 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 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 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 In summary, this large-scale meta-analysis indicated that SMAD7 polymorphisms (rs4464148, rs4939827, and rs12953717) correlate with CRC. 28070019 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. 26965516 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease BEFREE RHOA, SMAD2, SMAD4, SMAD5, SMAD6, BMPR1A, SMAD7 and MYC-, which thereby emerge as candidate genes to play an important role in CRC tumor metastasis. 27662660 2016
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