DisGeNET - a database of gene-disease associations

Ataxia Telangiectasia, C0004135

Variant: rs587779846 ×

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:

rs587779846

ATM

0.700

CausalMutation

CLINVAR

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

26681312

2016

dbSNP:

rs587779846

ATM

0.700

CausalMutation

CLINVAR

Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.

22649200

2012

dbSNP:

rs587779846

ATM

0.700

CausalMutation

CLINVAR

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.

16832357

2006

dbSNP:

rs587779846

ATM

0.700

CausalMutation

CLINVAR

Cancer risks and mortality in heterozygous ATM mutation carriers.

15928302

2005

dbSNP:

rs587779846

ATM

0.700

GeneticVariation

CLINVAR

Comprehensive scanning of the ATM gene with DOVAM-S.

12552559

2003

dbSNP:

rs587779846

ATM

0.700

CausalMutation

CLINVAR

Comprehensive scanning of the ATM gene with DOVAM-S.

12552559

2003

dbSNP:

rs587779846

ATM

0.700

CausalMutation

CLINVAR

Early diagnosis of ataxia-telangiectasia using radiosensitivity testing.

12072877

2002

dbSNP:

rs587779846

ATM

0.700

GeneticVariation

CLINVAR

Early diagnosis of ataxia-telangiectasia using radiosensitivity testing.

12072877

2002

dbSNP:

rs587779846

ATM

0.700

CausalMutation

CLINVAR

New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.

10425038

1999

dbSNP:

rs587779846

ATM

0.700

CausalMutation

CLINVAR

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.

10330348

1999

dbSNP:

rs587779846

ATM

0.700

GeneticVariation

CLINVAR

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

9887333

1999

dbSNP:

rs587779846

ATM

0.700

GeneticVariation

CLINVAR

New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.

10425038

1999

dbSNP:

rs587779846

ATM

0.700

GeneticVariation

CLINVAR

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.

10330348

1999