Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.090 GeneticVariation disease BEFREE Association Between the 5,10-MTHFR 677C>T and RFC1 80G>A Polymorphisms and Acute Lymphoblastic Leukemia. 31499477 2019
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.090 GeneticVariation disease BEFREE The influence of genetic RFC1, MS and MTHFR polymorphisms on the risk of acute lymphoblastic leukemia relapse in children and the adverse effects of methotrexate. 23986219 2013
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.090 GeneticVariation disease 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
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.090 GeneticVariation disease BEFREE This study evaluated the effect of the G80A polymorphism in the RFC1 gene on survival and risk of relapse of acute lymphoblastic leukemia. 22914600 2012
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.090 GeneticVariation disease BEFREE The increase in risk of adult ALL with the RFC1 80AA associated with the MTRR 66GG variant was even more significant (OR = 8.92; 95% CI 1.97-40.42). 21657963 2011
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.090 Biomarker disease BEFREE Polymorphisms in other folate related genes (MTRR, MTR [MS], TYMS [TS], SLC19A1 [RFC1], NNMT, and SHMT1) are less clearly associated with susceptibility to ALL, and the number of included studies on this subject in this review is limited. 19775302 2010
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.090 GeneticVariation disease BEFREE For the first time, we associate the RFC1 80G>A and NNMT IVS -151C>T variants to an increased ALL susceptibility. 19020309 2009
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.090 GeneticVariation disease BEFREE Sixteen single nucleotide polymorphisms (SNPs) (CYP3A4*1B A>G, CYP3A5*3 G>A, GSTP1 313 A>G, GSTM1 deletion, GSTT1 deletion, MDR1 exon 21 G>T/A, MDR1 exon 26 C>T, MTHFR 677 C>T, MTHFR 1298 A>C, NR3C1 1088 A>G, RFC 80 G>A, TPMT 238 G>C, TPMT 460 G>A, TPMT 719 A>G, VDR intron 8 G>A, VDR FokI T>C) that have been implicated in the pharmacogenetics of ALL therapy were analyzed by TotalPlex amplification and SNP genotyping. 18385010 2008
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.090 AlteredExpression disease BEFREE Our results suggest that RFC gene expression is far more predictive of methotrexate uptake capacity in B-precursor than T-ALL and that increased copies of chromosome 21 in B-precursor ALL blasts are generally associated with increased RFC transcripts. 9748136 1998