Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 Biomarker BEFREE Friedreich's Ataxia (FA) is an inherited disease causing degeneration of the nervous system. 31693434

2020

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 Biomarker BEFREE Heart disease is an integral part of Friedreich ataxia (FA). 31166002

2020

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 Biomarker BEFREE This meta-analysis provides a quantitative review and reappraisal of MRS findings in spinocerebellar ataxias (SCA) and Friedreich ataxia (FA) available to date. 31838195

2020

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 AlteredExpression BEFREE Friedreich ataxia (FA) is currently an incurable inherited mitochondrial neurodegenerative disease caused by reduced levels of frataxin. 30544254

2019

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 GeneticVariation BEFREE Friedreich ataxia (FRDA) is an autosomal recessive disorder due to mutations in the FXN gene. 29938355

2019

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 Biomarker 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

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 AlteredExpression BEFREE Here we demonstrate that DMF significantly increases frataxin gene (FXN) expression in FA cell model, FA mouse model and in DMF treated humans. 31158268

2019

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 GeneticVariation BEFREE Imbalance of iron homeostasis occurs in several cardiac diseases, including iron-overload cardiomyopathies such as Friedreich's ataxia (FRDA, OMIM no. 31049138

2019

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 AlteredExpression BEFREE Friedreich's ataxia (FRDA), a progressive neurodegenerative disorder caused by trinucleotide (GAA) repeat expansion in frataxin (fxn) gene which results in decreased levels of frataxin protein. 30874991

2019

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 AlteredExpression BEFREE Here, we show that etravirine can promote a significant increase in frataxin levels in cells derived from Friedreich's ataxia patients, by enhancing frataxin messenger RNA translation. 30624801

2019

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 AlteredExpression BEFREE In addition, gene expression in frataxin-deficient neuroglial cells and FA mouse hearts were compared for a total of 5 data sets. 31665133

2019

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 Biomarker BEFREE Friedreich's ataxia (FRDA) is a progressive disease affecting multiple organs that is caused by systemic insufficiency of the mitochondrial protein frataxin. 30905359

2019

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 Biomarker BEFREE Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by transcriptional silencing of the frataxin (<i>FXN</i>) gene, resulting in loss of the essential mitochondrial protein frataxin. 30552117

2019

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 GeneticVariation BEFREE Deficiency in FXN leads to the loss-of-function neurodegenerative disorder Friedreich's ataxia (FRDA). 31101807

2019

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 AlteredExpression BEFREE GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models. 30590615

2019

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 Biomarker BEFREE <b>Introduction</b>: Friedreich ataxia (FRDA), a rare disease caused by the deficiency of the mitochondrial matrix protein frataxin, affects roughly 1 in 50,000 individuals worldwide. 31311349

2019

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 AlteredExpression BEFREE Friedreich's ataxia (FRDA) is a devastating and currently incurable disease caused by insufficient expression of the enzyme frataxin (FXN). 31151992

2019

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 Biomarker BEFREE Deficient expression of the mitochondrial protein, frataxin, is the primary cause of FA, which leads to adverse alterations in whole cell and mitochondrial iron metabolism. 28782591

2018

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 GeneticVariation BEFREE Friedreich's ataxia (FRDA; OMIM 229300), an autosomal recessive neurodegenerative mitochondrial disease, is the most prevalent hereditary ataxia. 29509186

2018

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 Biomarker BEFREE Frataxin-deficient neonatal rat cardiomyocytes and dorsal root ganglia neurons have been used as cell models of Friedreich ataxia. 29223733

2018

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 AlteredExpression BEFREE Friedreich's ataxia (FRDA) is an incurable neurodegenerative disorder caused by reduced expression of the mitochondrial protein frataxin (FXN). 30076049

2018

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 GeneticVariation BEFREE Friedreich ataxia (FRDA) is a multisystem genetic disorder caused by GAA repeat expansion mutations within the FXN gene, resulting in heterochromatin formation and deficiency of frataxin protein. 30464193

2018

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 Biomarker CTD_human Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes. 30451920

2018

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 Biomarker BEFREE Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model. 29794127

2018

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.900 GeneticVariation BEFREE Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disease caused by mutations in the gene encoding for the mitochondrial protein frataxin, is characterized by ataxia and gait instability, immobility, and eventual death. 30294800

2018