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: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
0.010 GeneticVariation group BEFREE Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency. 27743887 2017