DisGeNET - a database of gene-disease associations

FRIEDREICH ATAXIA 1, C1856689

Variant: rs104894105 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894105

FXN

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

FXN

0.800

GeneticVariation

UNIPROT

A novel missense mutation (L198R) in the Friedreich's ataxia gene.

10874325

2000

dbSNP:

rs104894105

FXN

0.800

GeneticVariation

UNIPROT

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.

9989622

1999

dbSNP:

rs104894105

FXN

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

FXN

0.800

GeneticVariation

UNIPROT

Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.

9779809

1998

dbSNP:

rs104894105

FXN

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

FXN

0.800

CausalMutation

CLINVAR