Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2395
Gene Symbol: FXN
FXN
0.120 GeneticVariation disease BEFREE We compared the patient's clinical data to expansion/deletion carriers available in the literature and suggest that, in clinical practice, the FXN deletion test should be taken into account in patients with early-onset, rapid progressive ataxia and severe scoliosis. 26906906 2016
Entrez Id: 2395
Gene Symbol: FXN
FXN
0.120 Biomarker disease BEFREE Frataxin insufficiency leads to mitochrondrial dysfunction and progressive neurodegeneration, along with scoliosis, diabetes and cardiomyopathy. 17826840 2007
Entrez Id: 2395
Gene Symbol: FXN
FXN
0.120 Biomarker disease HPO