Gene: SLC46A1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 113235
Gene Symbol: SLC46A1
SLC46A1 		0.020 GeneticVariation phenotype BEFREE Inactivating FRα or PCFT mutations cause severe cerebral folate deficiency resulting in early childhood neurodegeneration. 28885847 2017
Entrez Id: 113235
Gene Symbol: SLC46A1
SLC46A1 		0.020 Biomarker phenotype BEFREE Loss of PCFT function, as occurs in the autosomal recessive disorder "hereditary folate malabsorption" (HFM), results in a syndrome characterized by severe systemic and cerebral folate deficiency. 27664775 2017