FOLR1, folate receptor alpha, 2348

N. diseases: 174; N. variants: 8
Disease: Folate Malabsorption, Hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.030 GeneticVariation disease BEFREE Cerebral folate deficiency due to folate receptor 1 gene (FOLR1) mutations is an autosomal recessive disorder resulting from a brain-specific folate transport defect. 27743887 2017
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.030 GeneticVariation disease BEFREE Cerebral folate transport deficiency is an inherited brain-specific folate transport defect that is caused by mutations in the folate receptor 1 gene coding for folate receptor alpha (FRα). 22586289 2012
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.030 GeneticVariation disease BEFREE We identified an inherited brain-specific folate transport defect that is caused by mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha). 19732866 2009