Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Friedreich's ataxia (FRDA) is a genetic neurodegenerative disorder caused by transcriptional silencing of the frataxin gene (FXN) due to expansions of GAA repeats in intron 1. 29261783

2018

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 AlteredExpression BEFREE Friedreich's ataxia (FRDA) is a neurodegenerative disease caused by reduced expression of the protein frataxin. 28412459

2017

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 Biomarker BEFREE So far, they have been shown to investigate the molecular mechanisms of many cardiac disorders, such as long-QT syndrome (LQT), catecholaminergic polymorphic ventricular tachycardia (CPVT), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), LEOPARD syndrome (LS), arrhythmogenic cardiomyopathy (ACM), Friedreich ataxia (FRDA), Barth syndrome (BTHS), hypoplastic left heart syndrome (HLHS), Marfan syndrome (MFS) and other CHD. 25322695

2017

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 AlteredExpression BEFREE All FRDA and carrier lines are derived using a standard operating procedure and characterized to confirm mutation status, as well as expression of FXN mRNA and protein. 27002638

2017

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Friedreich Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder most commonly caused by guanine-adenine-adenine (GAA) trinucleotide repeat expansions in both alleles of the FXN gene. 28109580

2017

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE It suggests that FRDA is a very rare cause of inheritance ataxia and FRDA genetic analysis should not be used as a routine genetic diagnosis test in China. 25765228

2016

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE FRDA is caused by expanded guanine-adenine-adenine (GAA) triplet repeats in the first intron of the frataxin gene (FXN), resulting in reduction of messenger RNA and protein levels of frataxin in different tissues. 25662948

2016

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 Biomarker BEFREE To identify genes capable of modifying the severity of the symptoms of frataxin depletion, we performed a candidate genetic screen in a Drosophila RNAi-based model of FRDA. 26158631

2016

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 AlteredExpression BEFREE FRDA is caused by reduced expression of the mitochondrial protein frataxin. 25552656

2016

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 Biomarker BEFREE Thus, Src inhibitors emerge as a new class of drugs able to promote frataxin accumulation, suggesting their possible use as therapeutics in FRDA. 25948553

2016

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 AlteredExpression BEFREE This open-label study shows no effect of resveratrol on frataxin levels in FRDA, but suggests that independent positive clinical and biologic effects of high-dose resveratrol may exist. 25845763

2016

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Friedreich's ataxia (FRDA), the autosomal neurodegenerative disorder is the only human disease known so far, where a large purine (GAA) repeat in the FXN gene is known to inhibit the expression of frataxin protein. 26149656

2016

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 Biomarker BEFREE The exact role of frataxin and its primary function remain unclear although this information would be very valuable to design a therapeutic approach for FRDA. 26035392

2016

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE The loss of function mutations (biallelic) in frataxin (FXN) has primarily been implicated in Friedreich's ataxia (FRDA), an autosomal recessive cerebellar ataxia. 26321457

2016

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Friedreich's ataxia (FRDA), a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy, is caused by silencing of the frataxin (FXN) gene encoding the mitochondrial protein involved in iron-sulfur cluster biosynthesis. 26625322

2016

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Friedreich's ataxia (FRDA) is an autosomal recessive neurological disease caused by expansions of guanine-adenine-adenine (GAA) repeats in intron 1 of the frataxin (FXN) gene. 25758173

2016

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 AlteredExpression BEFREE One of these two clones increases frataxin expression in primary FRDA fibroblasts, either as a vector-expressed shRNA or as a transfected short-interfering RNA (siRNA). 26286937

2016

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE This integrated analysis of categorized frataxin mutations and their correlation with clinical outcome provide a definitive resource for investigating disease pathogenesis in FRDA. 26704351

2016

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 AlteredExpression BEFREE Friedreich ataxia (FRDA) is a hereditary disease caused by deficient frataxin expression. 24751525

2015

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 AlteredExpression BEFREE It is generally accepted that Friedreich's ataxia (FRDA) is caused by a deficiency in frataxin expression, a mitochondrial protein involved in iron homeostasis, which mainly affects the brain, dorsal root ganglia of the spinal cord, heart and in certain cases the pancreas. 25929520

2015

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 Biomarker BEFREE An inherited deficiency of the mitochondrial protein frataxin causes Friedreich's ataxia (FRDA); the mechanism by which this deficiency triggers neuro- and cardio-degeneration is unclear. 25104852

2015

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 Biomarker BEFREE In Friedreich's ataxia (FRDA), frataxin deficiency results in iron redistribution in the dentate nuclei (DNC). 24779923

2015

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 AlteredExpression BEFREE Silencing of FXN expressions occurred both in somatic FRDA-skin fibroblasts and two of the induced pluripotent stem cells (iPSC) clones; a sign of stress condition was shown in FRDA-iPSC cardiomyocytes with disorganized mitochondrial network and mitochondrial DNA (mtDNA) depletion; hypertrophic cardiac stress responses were observed by an increase in α-actinin-positive cell sizes revealed by FACS analysis as well as elevation in brain natriuretic peptide (BNP) gene expression; the intracellular iron accumulated in FRDA cardiomyocytes might be due to attenuated negative feedback response of transferring receptor (TSFR) expression and positive feedback response of ferritin (FTH1); energy synthesis dynamics, in terms of ATP production rate, was impaired in FRDA-iPSC cardiomyocytes, which were prone to iron overload condition. 24327207

2015

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Expansion of GAA·TTC repeats within the first intron of the frataxin gene is the cause of Friedreich's ataxia (FRDA), an autosomal recessive neurodegenerative disorder. 24691413

2015

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Compound heterozygosity for a trinucleotide repeat expansion and a point mutation in the FXN gene is a rare cause of Friedreich ataxia (FRDA). 24816001

2015