Source: CLINGEN

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 CLINGEN Silencing of frataxin gene expression triggers p53-dependent apoptosis in human neuron-like cells. 21531789

2011
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		0.900 Biomarker CLINGEN Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis. 11714098

2001
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		0.900 Biomarker CLINGEN Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. 11175786

2001
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		0.900 Biomarker CLINGEN Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae. 11030757

2000
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		0.900 Biomarker CLINGEN Frataxin gene of Friedreich's ataxia is targeted to mitochondria. 9266741

1997
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		0.900 Biomarker CLINGEN The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase. 8841185

1996
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		0.900 Biomarker CLINGEN Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. 8596916

1996