FOLR2, folate receptor beta, 2350

N. diseases: 105; N. variants: 4
Disease: Fleck corneal dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		0.020 Biomarker disease BEFREE Cerebral folate deficiency (CFD) syndromes are defined as neuro-psychiatric conditions with low CSF folate and attributed to different causes such as autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus, FOLR1 gene mutations or mitochondrial disorders. 29661558 2018
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		0.020 GeneticVariation disease BEFREE Less frequent causes of CFD are FOLR-1 mutations, mitochondrial disorders and inborn errors affecting folate metabolism. 23314536 2013