FXN, frataxin, 2395

N. diseases: 220; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
0.110 Biomarker phenotype BEFREE Biochemical findings observed in FXTAS cells (lower mature frataxin, lower Complex IV and aconitase activities) along with common phenotypic traits shared by Friedreich's ataxia and FXTAS carriers (e.g. gait ataxia, loss of coordination) are consistent with a defective iron homeostasis in both diseases. 21558427 2011
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
0.110 Biomarker phenotype HPO