DisGeNET - a database of gene-disease associations

Ataxia Telangiectasia, C0004135

Variant: rs587781353 ×

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:

rs587781353

ATM ; C11orf65

0.700

GeneticVariation

CLINVAR

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

26681312

2016

dbSNP:

rs587781353

ATM ; C11orf65

0.700

GeneticVariation

CLINVAR

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

19781682

2009

dbSNP:

rs587781353

ATM ; C11orf65

0.700

GeneticVariation

CLINVAR

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

19431188

2009

dbSNP:

rs587781353

ATM ; C11orf65

0.700

GeneticVariation

CLINVAR

TCL-1, MTCP-1 and TML-1 gene expression profile in non-leukemic clonal proliferations associated with ataxia-telangiectasia.

11857346

2002

dbSNP:

rs587781353

ATM ; C11orf65

0.700

GeneticVariation

CLINVAR

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

10817650

2000

dbSNP:

rs587781353

ATM ; C11orf65

0.700

GeneticVariation

CLINVAR

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

9872980

1998

dbSNP:

rs587781353

ATM ; C11orf65

0.700

GeneticVariation

CLINVAR

Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

8659541

1996