RFC1, replication factor C subunit 1, 5981

N. diseases: 144; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE Folic acid deficiency, MTHFD1 rs2236225, MTHFR rs1801133, MTRR rs1801349 and RFC1 rs1051226 polymorphisms may be maternal risk factors of NTDs. 30867013 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE The BHMT gene rs3733890, RFC1 gene rs1051266 and MTR gene rs1805087 were associated with the occurrence of NTDs in Han population of Northern China. 28770393 2018
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE Our meta-analysis strongly suggested a significant association of the variant MTHFR C677T and a suggestive association of RFC-1 A80G with increased risk of NTDs. 23593147 2013
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE The present meta-analysis failed to support a positive association between RFC1 A80G polymorphism and susceptibility to NTDs. 22975209 2012
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE The RFC1 is likely to be an important candidate gene in folate transportation and RFC1 GG genotype (A80G) may be associated with an increased risk for NTDs in this Chinese population. 19105199 2009
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE Correlation of polymorphism of MTHFRs and RFC-1 genes with neural tube defects in China. 18022874 2008
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE Our findings suggest that the RFC1 G allele is likely to be an important genetic factor in determining folate transport and subsequently may be a risk factor for NTDs in this Chinese population. 15799025 2005
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE Since this small study is the first to demonstrate increased risk for women with the RFC-1 variant for having a child with a NTD, additional larger studies are required to confirm this change as another potential genetic modifier for spina bifida risk. 12855225 2003
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE Conversely, our data provide no evidence for an association between NTD phenotype and combined MTHFR C677T/RFC-1 A80G genotypes. 12673279 2003
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE In the present study we examined the genotypic distributions and the allele frequencies of MTHFR A1298 C and RFC-1 A80 G polymorphisms in DNA samples from healthy Italian individuals and compared them to the frequencies observed in NTD cases and their parents. 11813127 2001