FOLR1, folate receptor alpha, 2348

N. diseases: 174; N. variants: 8
Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.010 GeneticVariation group BEFREE FOLR1 mutation is one of the vitamin responsive encephalopathies and is inherited as an autosomal recessive condition. 30420205 2019