FOLR1, folate receptor alpha, 2348

N. diseases: 174; N. variants: 8
Disease: Progressive cerebellar ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.010 GeneticVariation disease BEFREE Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene. 20857335 2010