Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.320 Biomarker disease BEFREE Thus, to our knowledge for the first time in the literature, we show that MTHFD1L is involved in CRC progression and that blocking of MTHFD1L decreases the growth of colon cancer cells, thus providing an avenue to target this enzyme with small molecule inhibitors. 31421459 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.320 Biomarker disease BEFREE These results suggest that mtC(1)-THFS may participate in the progression of colorectal cancer by conferring growth advantage and could be a new molecular target for cancer therapy. 15013446 2004
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.320 GeneticVariation disease UNIPROT
CUI: C1845026
Disease: Neural tube defects X-linked
Neural tube defects X-linked
0.200 Biomarker disease MGD Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice. 23267094 2013
CUI: C1845027
Disease: Spina Bifida, X-Linked
Spina Bifida, X-Linked
0.200 Biomarker disease MGD Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice. 23267094 2013
Neural tube defect, folate-sensitive
0.200 Biomarker disease MGD Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice. 23267094 2013
CUI: C1866559
Disease: Spina Bifida, Folate-Sensitive
Spina Bifida, Folate-Sensitive
0.200 Biomarker disease MGD Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice. 23267094 2013
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.120 GeneticVariation disease BEFREE The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1.26), MIA3 rs17465637 (OR 1.10; 1.04-1.15), Ch2q36 rs2943634 (OR 1.08; 1.03-1.14), APC rs383830 (OR 1.10; 1.02, 1.18), MTHFD1L rs6922269 (OR 1.10; 1.03, 1.16), CXCL12 rs501120 (OR 1.12; 1.04, 1.20), and SMAD3 rs17228212 (OR 1.11; 1.05, 1.17) were all associated with CHD risk, but not with the CHD biomarkers and risk factors measured. 21804106 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.120 Biomarker disease BEFREE We found no evidence of association between the MTHFD1L marker and susceptibility to Alzheimer's disease in our sample. 21383495 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.120 GeneticVariation disease BEFREE Our data revealed that the allele (A) of the rs11754661 polymorphism within MTHFD1L gene may contribute to AD risk in the Chinese Han population. 21741665 2011
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.120 GeneticVariation disease BEFREE Nine loci were statistically associated with incident CHD events in white participants: 9p21 (rs10757278; P=4.7 × 10(-41)), 16q23.1 (rs2549513; P=0.0004), 6p24.1 (rs499818; P=0.0002), 2q36.3 (rs2943634; P=6.7 × 10(-6)), MTHFD1L (rs6922269, P=5.1 × 10(-10)), APOE (rs429358; P=2.7×10(-18)), ZNF627 (rs4804611; P=5.0 × 10(-8)), CXCL12 (rs501120; P=1.4 × 10(-6)) and LPL (rs268; P=2.7 × 10(-17)). 22042884 2011
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.120 GeneticVariation disease GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.120 GeneticVariation disease GWASDB Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. 20885792 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.120 GeneticVariation disease GWASCAT Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. 20885792 2010
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.120 GeneticVariation disease GWASCAT Genomewide association analysis of coronary artery disease. 17634449 2007
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.120 GeneticVariation disease GWASDB Genomewide association analysis of coronary artery disease. 17634449 2007
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.110 GeneticVariation disease BEFREE Polymorphisms in MTHFD1L, including rs6922269, have been implicated in risk for coronary artery disease (CAD). 24618918 2014
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.110 GeneticVariation disease GWASDB Genomewide association analysis of coronary artery disease. 17634449 2007
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases
0.100 GeneticVariation group GWASCAT Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. 27082954 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 GeneticVariation disease GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
Low density lipoprotein cholesterol measurement
0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0524957
Disease: Corneal Topography
Corneal Topography
0.100 GeneticVariation phenotype GWASDB Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus. 22003120 2011
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.080 Biomarker group BEFREE In addition to well established mechanisms in one-carbon metabolism, formate may play an important role in early pregnancy by preventing the onset of neural tube defects in sensitive strains of mice, including mice with deficiencies in MTHFD1L, the glycine cleavage system and the mitochondrial folate transporter. 31688093 2020
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.080 GeneticVariation group BEFREE Deletion of Mthfd1l causes embryonic lethality, developmental delay, and neural tube defects in mice. 31518072 2019