SLC46A1, solute carrier family 46 member 1, 113235

N. diseases: 97; N. variants: 20
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		0.020 GeneticVariation phenotype BEFREE Inactivating FRα or PCFT mutations cause severe cerebral folate deficiency resulting in early childhood neurodegeneration. 28885847 2017
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		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