FXN, frataxin, 2395

N. diseases: 220; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894106
rs104894106
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.810 GeneticVariation UNIPROT The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia. 19629184 2009
dbSNP: rs104894106
rs104894106
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.810 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
dbSNP: rs104894106
rs104894106
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.810 GeneticVariation UNIPROT A novel missense mutation (L198R) in the Friedreich's ataxia gene. 10874325 2000
dbSNP: rs104894106
rs104894106
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.810 GeneticVariation UNIPROT Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. 9989622 1999
dbSNP: rs104894106
rs104894106
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.810 GeneticVariation UNIPROT The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. 10732799 1998
dbSNP: rs104894106
rs104894106
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.810 GeneticVariation UNIPROT Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. 9779809 1998
dbSNP: rs104894106
rs104894106
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.810 GeneticVariation UNIPROT Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. 9150176 1997
dbSNP: rs104894106
rs104894106
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		T 0.810 CausalMutation CLINVAR
dbSNP: rs104894105
rs104894105
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.800 GeneticVariation UNIPROT The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia. 19629184 2009
dbSNP: rs104894107
rs104894107
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.800 GeneticVariation UNIPROT The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia. 19629184 2009
dbSNP: rs104894105
rs104894105
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.800 GeneticVariation UNIPROT A novel missense mutation (L198R) in the Friedreich's ataxia gene. 10874325 2000
dbSNP: rs104894107
rs104894107
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.800 GeneticVariation UNIPROT A novel missense mutation (L198R) in the Friedreich's ataxia gene. 10874325 2000
dbSNP: rs104894105
rs104894105
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.800 GeneticVariation UNIPROT Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. 9989622 1999
dbSNP: rs104894107
rs104894107
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.800 GeneticVariation UNIPROT Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. 9989622 1999
dbSNP: rs104894105
rs104894105
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.800 GeneticVariation UNIPROT The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. 10732799 1998
dbSNP: rs104894105
rs104894105
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.800 GeneticVariation UNIPROT Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. 9779809 1998
dbSNP: rs104894107
rs104894107
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.800 GeneticVariation UNIPROT Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. 9779809 1998
dbSNP: rs104894107
rs104894107
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.800 GeneticVariation UNIPROT The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. 10732799 1998
dbSNP: rs104894105
rs104894105
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
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
dbSNP: rs104894107
rs104894107
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
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
dbSNP: rs104894105
rs104894105
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104894107
rs104894107
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs146818694
rs146818694
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.720 GeneticVariation BEFREE The genotypic and phenotypic spectrum of FRDA was similar to other populations, with one patient compound heterozygote for a known point mutation in FXN (Asn146Lys). 24209901 2014
dbSNP: rs146818694
rs146818694
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		0.720 GeneticVariation BEFREE To reinvestigate the mutation spectrum, we searched for mutations including exon deletions in six patients heterozygous for the GAA repeat expansion and found two unknown missense mutations, p.Asn146Lys and p.Leu186Arg, in trans to the expanded FRDA allele. 15340363 2004
dbSNP: rs146818694
rs146818694
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C1856689
Disease:
FRIEDREICH ATAXIA 1 		G 0.720 CausalMutation CLINVAR