Source: ALL
Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Blood Pressure
CUI: C0005823
Disease: Blood Pressure
0.700 GeneticVariation GWASDB Blood pressure loci identified with a gene-centric array. 22100073 2012
Blood pressure finding
CUI: C1271104
Disease: Blood pressure finding
0.700 GeneticVariation GWASDB Blood pressure loci identified with a gene-centric array. 22100073 2012
Systemic arterial pressure
CUI: C1272641
Disease: Systemic arterial pressure
0.700 GeneticVariation GWASDB Blood pressure loci identified with a gene-centric array. 22100073 2012
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
0.070 GeneticVariation BEFREE In this hospital-based case-control study, the role of MTHFR C677T (rs1801133) and A1298C (rs1801131) genotypes in determining CRC risk were investigated among 362 patients with CRC and an equal number of age- and gender-matched healthy individuals. 29599316 2018
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
0.070 GeneticVariation BEFREE We genotyped MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) for 498 CRC patients treated with 5-FU-based chemotherapy after receiving surgery. 28044213 2017
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
0.070 GeneticVariation BEFREE The present meta-analysis showed that rs1801133 and rs1801131 might be CRC susceptibility variants in Americans and Australians and rs1801133 in Brazilians and Japanese. 25823789 2016
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
0.070 GeneticVariation BEFREE MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer patients: analysis of two independent cohorts from Newfoundland. 23626689 2013
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
0.070 GeneticVariation BEFREE In the present study, we have assessed the association of six polymorphisms and relative haplotypes in the MTHFR gene (rs1801133 and rs1801131) and in the MTRR gene (rs1801394, rs1532268, rs162036, and rs10380) with the risk for colorectal cancer in 666 patients and 1377 controls from the Czech Republic. 21211571 2011
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
0.070 GeneticVariation BEFREE From studying the population-based families, the C677T (rs1801133) and A1298C (rs1801131) polymorphisms were associated with a decreased colorectal cancer risk overall [odds ratio (OR), 0.81; 95% confidence interval (95% CI), 0.63-1.04; and OR, 0.82; 95% CI, 0.64-1.07, respectively]. 20056627 2010
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
0.070 GeneticVariation BEFREE Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8 c.-352T>A, and MTHFR c.1286A>C (p.Ala429Glu). 18992148 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.060 GeneticVariation BEFREE In this hospital-based case-control study, the role of MTHFR C677T (rs1801133) and A1298C (rs1801131) genotypes in determining CRC risk were investigated among 362 patients with CRC and an equal number of age- and gender-matched healthy individuals. 29599316 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.060 GeneticVariation BEFREE We genotyped MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) for 498 CRC patients treated with 5-FU-based chemotherapy after receiving surgery. 28044213 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.060 GeneticVariation BEFREE The present meta-analysis showed that rs1801133 and rs1801131 might be CRC susceptibility variants in Americans and Australians and rs1801133 in Brazilians and Japanese. 25823789 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.060 GeneticVariation BEFREE MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer patients: analysis of two independent cohorts from Newfoundland. 23626689 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.060 GeneticVariation BEFREE In the present study, we have assessed the association of six polymorphisms and relative haplotypes in the MTHFR gene (rs1801133 and rs1801131) and in the MTRR gene (rs1801394, rs1532268, rs162036, and rs10380) with the risk for colorectal cancer in 666 patients and 1377 controls from the Czech Republic. 21211571 2011
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.060 GeneticVariation BEFREE From studying the population-based families, the C677T (rs1801133) and A1298C (rs1801131) polymorphisms were associated with a decreased colorectal cancer risk overall [odds ratio (OR), 0.81; 95% confidence interval (95% CI), 0.63-1.04; and OR, 0.82; 95% CI, 0.64-1.07, respectively]. 20056627 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.050 GeneticVariation BEFREE Haplotype analysis also showed that MTHFR CACCAA and AGTCAC haplotypes (rs12121543-rs13306553-rs9651118-rs1801133-rs4846048-rs1801131) had significant reduced risk of breast cancer (adjusted OR = 0.70, 95 % CI 0.58-0.86; adjusted OR = 0.57, 95 % CI 0.40-0.80) compared with CATTAA haplotype. 25566964 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.050 GeneticVariation BEFREE Association of 677 C>T (rs1801133) and 1298 A>C (rs1801131) polymorphisms in the MTHFR gene and breast cancer susceptibility: a meta-analysis based on 57 individual studies. 24945727 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.050 GeneticVariation BEFREE Association of 677 C>T (rs1801133) and 1298 A>C (rs1801131) polymorphisms in the MTHFR gene and breast cancer susceptibility: a meta-analysis based on 57 individual studies. 24945727 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.050 GeneticVariation BEFREE Haplotype analysis also showed that MTHFR CACCAA and AGTCAC haplotypes (rs12121543-rs13306553-rs9651118-rs1801133-rs4846048-rs1801131) had significant reduced risk of breast cancer (adjusted OR = 0.70, 95 % CI 0.58-0.86; adjusted OR = 0.57, 95 % CI 0.40-0.80) compared with CATTAA haplotype. 25566964 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.050 GeneticVariation BEFREE Lack of association between MHTFR Glu429Ala polymorphism and breast cancer susceptibility: a systematic review and meta-analysis of 29 research studies. 23393023 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.050 GeneticVariation BEFREE Lack of association between MHTFR Glu429Ala polymorphism and breast cancer susceptibility: a systematic review and meta-analysis of 29 research studies. 23393023 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.050 GeneticVariation BEFREE We examined if the association between tertiles of dietary folate equivalents (DFE) and breast cancer was different in subgroups according to genotypes of the MTHFR 677 C>T (rs1801133) and 1298A>C (rs1801131) SNPs and if the polymorphisms per se were associated with breast cancer. 19336565 2009
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.050 GeneticVariation BEFREE We investigated the association of polymorphisms in MTHFR (rs1801133 and rs1801131) and MTR (rs1805087) with breast cancer risk and their interaction with alcohol consumption in a case-control study--the Western New York Exposures and Breast Cancer study. 19706843 2009
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.050 GeneticVariation BEFREE We investigated the association of polymorphisms in MTHFR (rs1801133 and rs1801131) and MTR (rs1805087) with breast cancer risk and their interaction with alcohol consumption in a case-control study--the Western New York Exposures and Breast Cancer study. 19706843 2009