FXN, frataxin, 2395

N. diseases: 220; N. variants: 21
Disease: Ataxias, Hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		0.360 Biomarker disease BEFREE Friedreich ataxia (FRDA) is a multisystem neurodegenerative disorder and the most common hereditary ataxia. 31575456 2019
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		0.360 GeneticVariation disease BEFREE Although ataxia can be a symptom of many common conditions, the focus here is on the progressive ataxias, and include hereditary ataxia (e.g. spinocerebellar ataxia (SCA), Friedreich's ataxia (FRDA)), idiopathic sporadic cerebellar ataxia, and specific neurodegenerative disorders in which ataxia is the dominant symptom (e.g. cerebellar variant of multiple systems atrophy (MSA-C)). 30786918 2019
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		0.360 Biomarker disease BEFREE Friedreich ataxia is the most common of the hereditary ataxias. 31494282 2019
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		0.360 GeneticVariation disease BEFREE Friedreich's ataxia (FRDA; OMIM 229300), an autosomal recessive neurodegenerative mitochondrial disease, is the most prevalent hereditary ataxia. 29509186 2018
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		0.360 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		0.360 GeneticVariation disease BEFREE The GAA trinucleotide repeats in the FXN gene were analyzed by triplet repeat-primed PCR (TP-PCR) in 122 unrelated hereditary ataxia (HA) and 114 unrelated hereditary spastic paraplegia (HSP) patients. 25765228 2015
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		0.360 Biomarker disease BEFREE Nerve conduction studies have been performed in 19 subject with hereditary spinocerebellar degenerations other than Friedreich ataxia. 7231446 1981