FOLR2, folate receptor beta, 2350

N. diseases: 105; N. variants: 4
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
0.340 AlteredExpression group BEFREE In NTDs, there was an adaptive up-regulation of folate transporters mainly reduced folate carrier (p < 0.001) and folate receptor alpha (p < 0.001). 30941645 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.340 GeneticVariation group BEFREE SNP rs651646 (A-->T), located upstream of exon 2 within an intronic region, is polymorphic and is thus a marker for an FRbeta NTD association study. 12809644 2003
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.340 Biomarker group CTD_human Arsenic-induced congenital malformations in genetically susceptible folate binding protein-2 knockout mice. 11749123 2001
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.340 Biomarker group BEFREE Using a Midwestern NTD population consisting of probands, parents, and siblings from Iowa, Minnesota, and Nebraska, we analyzed a range of candidate genes, including 5,10-methylenetetrahydrofolate reductase (MTHFR), folate receptors-alpha (FOLR1; hereafter abbreviated "FR-alpha") and -beta (FOLR2; hereafter, "FR-beta"), methionine synthase (hereinafter, "MS"), T, the human homolog of the murine Brachyury gene, and the paired-box homeotic gene 3 (PAX3), for association with NTDs. 10332959 1999
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.340 GeneticVariation group BEFREE It is unlikely that the beneficial effects of maternal folate supplementation in preventing NTDs acts through a mechanism involving pharmacological correction of a variant form of folate receptor alpha. 9545095 1998