DisGeNET - a database of gene-disease associations

Ataxia with vitamin E deficiency, C1848533

Variant: rs121917849 ×

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:

rs121917849

TTPA

0.800

GeneticVariation

UNIPROT

EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.

24418350

2014

dbSNP:

rs121917849

TTPA

0.800

GeneticVariation

UNIPROT

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

20050888

2010

dbSNP:

rs121917849

TTPA

0.800

GeneticVariation

UNIPROT

Molecular determinants of heritable vitamin E deficiency.

15065857

2004

dbSNP:

rs121917849

TTPA

0.800

GeneticVariation

UNIPROT

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.

15300460

2004

dbSNP:

rs121917849

TTPA

0.800

GeneticVariation

UNIPROT

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

9463307

1998

dbSNP:

rs121917849

TTPA

0.800

GeneticVariation

UNIPROT

Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.

8602747

1996

dbSNP:

rs121917849

TTPA

0.800

GeneticVariation

UNIPROT

Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein.

7566022

1995

dbSNP:

rs121917849

TTPA

0.800

CausalMutation

CLINVAR