DisGeNET - a database of gene-disease associations

Ataxia Telangiectasia, C0004135

Variant: rs587779872 ×

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:

rs587779872

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

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

27664052

2017

dbSNP:

rs587779872

ATM ; C11orf65

0.800

CausalMutation

CLINVAR

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

26681312

2016

dbSNP:

rs587779872

ATM ; C11orf65

0.800

GeneticVariation

CLINVAR

Neuropathology in classical and variant ataxia-telangiectasia.

22017321

2012

dbSNP:

rs587779872

ATM ; C11orf65

0.800

CausalMutation

CLINVAR

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

19431188

2009

dbSNP:

rs587779872

ATM ; C11orf65

0.800

GeneticVariation

CLINVAR

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

19431188

2009

dbSNP:

rs587779872

ATM ; C11orf65

0.800

CausalMutation

CLINVAR

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

18634022

2009

dbSNP:

rs587779872

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

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

19431188

2009

dbSNP:

rs587779872

ATM ; C11orf65

0.800

GeneticVariation

CLINVAR

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

18634022

2009

dbSNP:

rs587779872

ATM ; C11orf65

0.800

CausalMutation

CLINVAR

Comprehensive scanning of the ATM gene with DOVAM-S.

12552559

2003

dbSNP:

rs587779872

ATM ; C11orf65

0.800

GeneticVariation

CLINVAR

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

10817650

2000

dbSNP:

rs587779872

ATM ; C11orf65

0.800

CausalMutation

CLINVAR

Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.

10873394

2000

dbSNP:

rs587779872

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

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

10817650

2000

dbSNP:

rs587779872

ATM ; C11orf65

0.800

GeneticVariation

CLINVAR

Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.

10873394

2000

dbSNP:

rs587779872

ATM ; C11orf65

0.800

CausalMutation

CLINVAR

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

10817650

2000

dbSNP:

rs587779872

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:

rs587779872

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

9887333

1999

dbSNP:

rs587779872

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:

rs587779872

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

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

9872980

1998

dbSNP:

rs587779872

ATM ; C11orf65

0.800

CausalMutation

CLINVAR

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

9443866

1998

dbSNP:

rs587779872

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:

rs587779872

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

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

9711876

1998

dbSNP:

rs587779872

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

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

9521587

1998

dbSNP:

rs587779872

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

9497252

1998

dbSNP:

rs587779872

ATM ; C11orf65

0.800

GeneticVariation

UNIPROT

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

9792409

1998

dbSNP:

rs587779872

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