DisGeNET - a database of gene-disease associations

Ataxia Telangiectasia, C0004135

Variant: rs397514577 ×

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:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

27664052

2017

dbSNP:

rs397514577

ATM ; C11orf65

0.800

CausalMutation

CLINVAR

Ataxia-telangiectasia with female fertility.

25914063

2015

dbSNP:

rs397514577

ATM ; C11orf65

0.800

CausalMutation

CLINVAR

We studied 10 Mennonite patients who carry the c.6200C>A missense mutation (p.A2067D) in the ATM gene, all of whom exhibited a phenotypic variant of ataxia-telangiectasia (A-T) that is characterized by early-onset dystonia and late-onset mild ataxia, as previously described.

25077176

2014

dbSNP:

rs397514577

ATM ; C11orf65

0.800

CausalMutation

CLINVAR

Cognitive phenotype in ataxia-telangiectasia.

25037873

2014

dbSNP:

rs397514577

ATM ; C11orf65

0.800

CausalMutation

CLINVAR

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.

22345219

2012

dbSNP:

rs397514577

ATM ; C11orf65

0.800

CausalMutation

CLINVAR

Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

22529920

2012

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

Modeling ATM mutant proteins from missense changes confirms retained kinase activity.

19431188

2009

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.

10817650

2000

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

9887333

1999

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.

10234507

1999

dbSNP:

rs397514577

ATM ; C11orf65

0.800

CausalMutation

CLINVAR

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

9887333

1999

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.

9792409

1998

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.

9521587

1998

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

9443866

1998

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.

9711876

1998

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.

9463314

1998

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain.

9450874

1998

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.

9872980

1998

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

9497252

1998

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms.

9150358

1997

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.

9043869

1996

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

Predominance of null mutations in ataxia-telangiectasia.

8845835

1996

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.

8789452

1996

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

8808599

1996

dbSNP:

rs397514577

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

A single ataxia telangiectasia gene with a product similar to PI-3 kinase.

7792600

1995