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 It appears that intracellular sequestration of trace metals in FRDA patients (due to low frataxin) results in their sub-optimal levels in blood plasma (extra-cellular) an observation that can find prognostic application in clinical trials. 30874991

2019

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE The point mutations I154F and W155R in frataxin cause FRDA and are clustered to one surface of the protein, and these mutations decrease the interaction of frataxin with ISD11. 17331979

2007

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Increased DNA methylation at the FXN upstream GAA region, primarily 5 hmC rather than 5 mC, and decreased CTCF occupancy at the FXN 5' UTR are associated with FRDA disease-relevant human tissues. 24023969

2013

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 disorder caused by mutations in the gene encoding frataxin, a mitochondrial protein implicated in iron metabolism. 19748629

2009

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Friedreich ataxia (FRDA) is the most common inherited ataxia caused primarily by an intronic GAA.TTC triplet repeat expansion in the frataxin (FXN) gene. 22764244

2012

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Friedreich ataxia (FRDA) is caused by homozygosity for FXN alleles containing an expanded GAA triplet-repeat (GAA-TR) sequence. 17024371

2007

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

2017

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE A conditional mouse model with complete frataxin deletion in cardiac and skeletal muscle (Mck-Cre-Fxn(L3/L-) mice) recapitulates most features of FRDA cardiomyopathy, albeit with a more rapid and severe course. 24705334

2014

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 the most common form of autosomal recessive ataxia caused by a deficit in the mitochondrial protein frataxin. 20460268

2010

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE We present a case of compound heterozygotes in a FRDA patient who has a deletion of one T in the start codon (ATG) of the frataxin gene and a GAA repeat expansion in the other allele. 12112211

2002

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Approximately 75% of Indo-European patients with recessive ataxia are homozygous for frataxin gene (FXN) mutations and have either typical or atypical Friedreich ataxia (FRDA). 17110750

2006

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE The aim of this study was to better define the LV geometric changes in FRDA with respect to sex, body size and subject age, and to investigate the relationship of LV changes with genetic severity, as assessed by GAA repeat length within the shorter allele of the FXN gene (GAA1). 31721791

2019

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Approximately 95% of all Friedreich's ataxia (FA) patients are homozygous for a large GAA triplet-repeat expansion in the first intron of the Friedreich's ataxia gene (FRDA). 9779809

1998

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Our structure reveals how FXN facilitates ISC production through stabilizing key loop conformations of NFS1 and ISCU at the protein-protein interfaces, and suggests how FRDA clinical mutations affect complex formation and FXN activation. 31101807

2019

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation CLINVAR

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Our study now shows that RNA/DNA hybrids (R-loops) form in patient cells on expanded repeats of endogenous FXN and FMR1 genes, associated with FRDA and FXS. 24787137

2014

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

2015

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 recessive degenerative disorder of nervous and muscles tissue, is caused by the massive expansion of (GAA) repeats that occur in the first intron of Frataxin gene X25 on chromosome 9q13-q21.1. 22750988

2012

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation UNIPROT Interestingly, cells expressing the mutated frataxin presented a FRDA-like biochemical phenotype. 19629184

2009

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE The most frequent mutation of Friedreich ataxia (FRDA) is the abnormal expansion of a GAA repeat located within the first intron of FXN gene. 18697824

2008

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Friedreich ataxia (FRDA) is the most frequent progressive autosomal recessive disorder associated with unstable expansion of GAA trinucleotide repeats in the first intron of the FXN gene, which encodes for the mitochondrial frataxin protein. 24705504

2014

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Most patients (98%) with Friedreich's ataxia (FRDA) are homozygous for the GAA repeat expansion in FXN. 22691228

2012

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 the common cause of ataxia often associated with the expansion of a GAA repeat in intron 1 of the frataxin gene (FXN). 24011957

2014

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Expansion of GAA repeats in the intron of the frataxin gene is involved in the autosomal recessive Friedreich's ataxia (FRDA). 12354077

2002