FXN, frataxin, 2395

N. diseases: 220; N. variants: 21
Disease: Mitochondrial pathology ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3825201
Disease: Mitochondrial pathology
Mitochondrial pathology 		0.010 Biomarker phenotype BEFREE Frataxin deficiency is associated with mitochondrial dysfunction in FRDA patients and animal models; however, early mitochondrial pathology in FRDA cerebellum remains elusive. 29125827 2017