FOLR1, folate receptor alpha, 2348

N. diseases: 174; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.300 Biomarker disease CTD_human Three patients carrying FOLR1 mutations developed progressive movement disturbance, psychomotor decline, and epilepsy and showed severely reduced folate concentrations in the cerebrospinal fluid (CSF). 19732866 2009