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 CLINVAR

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

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 Biomarker CTD_human

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation UNIPROT Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. 9150176

1997

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 AlteredExpression BEFREE Regional differences in repeat size could not account for the characteristic distribution of pathology in FRDA, which appears instead to be related to the pattern of frataxin expression. 9270608

1997

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 Biomarker BEFREE Mutated frataxin triggers aconitase and mitochondrial Fe-S respiratory enzyme deficiency in FRDA, which should therefore be regarded as a mitochondrial disorder. 9326946

1997

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 AlteredExpression BEFREE The tissues expressing frataxin during development appear to be those that become dysfunctional or atrophied in FRDA. 9331900

1997

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE Evaluation of the X25 gene revealed that the patient was homozygous for the GAA triplet repeat expansion, pathognomonic of FRDA. 9486868

1998

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 Biomarker BEFREE Frataxin is a mitochondrial protein deficient in Friedreich ataxia (FRDA) and which is associated with abnormal intramitochondrial iron handling. 9700204

1998

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 UNIPROT 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 Expansions of the triplet repeat, GAA/TTC, inside the first intron of the frataxin gene causes Friedreich's ataxia (FRDA). 9925783

1999

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 AlteredExpression BEFREE Expansions of an intronic GAA repeat reduce the expression of frataxin and cause Friedreich's ataxia (FRDA), an autosomal recessive neurodegenerative disease. 9949201

1999

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation UNIPROT Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. 9989622

1999

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE To analyze frequencies of markers tightly linked to the Friedreich ataxia gene and to investigate wheter a limited number of ancestral chromosomes are shared by German FRDA families, a detailed analysis employing nine polymorphic markers was performed. 10077729

1999

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 Biomarker BEFREE This suggests that human MIP may contribute to the functional effects of frataxin deficiency and the clinical manifestations of FRDA. 10332043

1999

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 Biomarker BEFREE The FRDA gene encodes a widely expressed 210-aa protein, frataxin, which is located in mitochondria and is severely reduced in FRDA patients. 10500204

1999

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 AlteredExpression BEFREE The iron accumulation, mitochondrial respiratory chain and aconitase dysfunction and mitochondrial DNA depletion in FRDA heart samples largely paralleled those in the yeast YFH1 knockout model, suggesting that frataxin may be involved in mitochondrial iron regulation or iron sulphur centre synthesis. 10607838

2000

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation UNIPROT These cases, and a further five reported cases of point mutations causing FRDA, demonstrate that splicing, nonsense, or initiation codon mutations (which cause a complete absence of functional frataxin) are associated with a severe phenotype. 10732799

1998

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation BEFREE These cases, and a further five reported cases of point mutations causing FRDA, demonstrate that splicing, nonsense, or initiation codon mutations (which cause a complete absence of functional frataxin) are associated with a severe phenotype. 10732799

1998

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 GeneticVariation UNIPROT A novel missense mutation (L198R) in the Friedreich's ataxia gene. 10874325

2000

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 Biomarker BEFREE Frataxin deficiency is the primary cause of Friedreich ataxia (FRDA), an autosomal recessive cardiodegenerative and neurodegenerative disease. 10930361

2000

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 Biomarker BEFREE Human frataxin (fxn) is severely reduced in Friedreich ataxia (FRDA), a frequent autosomal recessive neuro- and cardio-degenerative disease. 11030757

2000

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.800 AlteredExpression BEFREE In principle, therapeutic agents that selectively interfere with triplex formation could alleviate the frataxin transcript insufficiency caused by pathogenic FRDA alleles. 11121484

2000