Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11873890
rs11873890
TYMS
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs11873890
rs11873890
TYMS
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs11873890
rs11873890
TYMS
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs11873890
rs11873890
TYMS
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs2847153
rs2847153
TYMS
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 GeneticVariation GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170

2012
dbSNP: rs3891167
rs3891167
TYMS ; TYMSOS
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs66567989
rs66567989
TYMS
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs66567989
rs66567989
TYMS
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 GeneticVariation BEFREE Cross-talk was observed between one-carbon and xenobiotic pathways in breast cancer (RFC 80 G>A, COMT H108L and TYMS 5'-UTR 28 bp tandem repeat) and SLE (CYP1A1 m1, MTRR 66 A>G and GSTT1). 25648260

2015
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 GeneticVariation BEFREE Cross-talk was observed between one-carbon and xenobiotic pathways in breast cancer (RFC 80 G>A, COMT H108L and TYMS 5'-UTR 28 bp tandem repeat) and SLE (CYP1A1 m1, MTRR 66 A>G and GSTT1). 25648260

2015
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 GeneticVariation BEFREE Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group. 22134752

2012
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 GeneticVariation BEFREE Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group. 22134752

2012
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.030 GeneticVariation BEFREE Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques. 22838948

2012
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 GeneticVariation BEFREE Low dietary folate intake (P < 0.001), RFC1 G80A (OR: 1.38, 95% CI 1.06-1.81) and MTHFR C677T (OR: 1.74 (1.11-2.73) were independently associated with the breast cancer risk whereas cSHMT C1420T conferred protection (OR: 0.72, 95% CI 0.55-0.94). 21161404

2011
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.030 GeneticVariation BEFREE SLC19A1 80G > A emerged as the predominant polymorphism associated with risk of ALL. 20824655

2011
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 GeneticVariation BEFREE Low dietary folate intake (P < 0.001), RFC1 G80A (OR: 1.38, 95% CI 1.06-1.81) and MTHFR C677T (OR: 1.74 (1.11-2.73) were independently associated with the breast cancer risk whereas cSHMT C1420T conferred protection (OR: 0.72, 95% CI 0.55-0.94). 21161404

2011
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.030 GeneticVariation BEFREE For the first time, we associate the RFC1 80G>A and NNMT IVS -151C>T variants to an increased ALL susceptibility. 19020309

2009
dbSNP: rs1059394
rs1059394
TYMS ; ENOSF1
CUI: C0017638
Disease: Glioma
Glioma 		0.020 GeneticVariation BEFREE Our study provides evidence of the effect of <i>TYMS</i> rs1059394 on the susceptibility of glioma. 31632074

2019
dbSNP: rs1059394
rs1059394
TYMS ; ENOSF1
CUI: C0017638
Disease: Glioma
Glioma 		0.020 GeneticVariation BEFREE These results suggest that GOLGA7 (rs11337) polymorphism may play a role in the prognosis of glioma patients and that TYMS (rs1059394) is associated with glioma risk. 31525662

2019
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.020 GeneticVariation BEFREE Gene-gene interactions within one-carbon metabolic pathway were observed in CAD (GCPII 1561 C>T, SHMT 1420 C>T and MTHFR 677 C>T) and PD (cSHMT 1420 C>T, MTRR 66 A>G and RFC1 80 G>A). 25648260

2015
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 GeneticVariation BEFREE Cross-talk was observed between one-carbon and xenobiotic pathways in breast cancer (RFC 80 G>A, COMT H108L and TYMS 5'-UTR 28 bp tandem repeat) and SLE (CYP1A1 m1, MTRR 66 A>G and GSTT1). 25648260

2015
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 GeneticVariation BEFREE The RFC1 80G>A polymorphism showed 1.32-fold risk (95% CI: 1.02-1.72) for SLE, while glutamate carboxypeptidase II (GCPII) 1561C>T showed reduced risk (OR: 0.47, 95% CI: 0.24-0.90). 24333266

2014
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.020 GeneticVariation BEFREE In view of growing body of evidence favouring the association of aberrations in one-carbon metabolism and oxidative stress in the aetiology of coronary artery disease (CAD), we investigated the risk associated with polymorphisms regulating the folate uptake and transport such as the glutamate carboxypeptidase II (GCPII) C1561T, reduced folate carrier 1 (RFC1) G80A and cytosolic serine hydroxymethyltransferase (cSHMT) C1420T. 22147344

2013
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 GeneticVariation BEFREE Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques. 22838948

2012
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 GeneticVariation BEFREE Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques. 22838948

2012