FOLR1, folate receptor alpha, 2348

N. diseases: 36; N. variants: 6
Disease: Central Nervous System Inborn Metabolic Diseases ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752110
Disease: Central Nervous System Inborn Metabolic Diseases
Central Nervous System Inborn Metabolic Diseases 		0.300 Biomarker group CTD_human Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. 19732866 2009