DisGeNET - a database of gene-disease associations

Ataxia Telangiectasia, C0004135

Variant: rs587780612 ×

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:

rs587780612

ATM

0.700

GeneticVariation

CLINVAR

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

22213089

2012

dbSNP:

rs587780612

ATM

0.700

CausalMutation

CLINVAR

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

22213089

2012

dbSNP:

rs587780612

ATM

0.700

CausalMutation

CLINVAR

Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

21792198

2011

dbSNP:

rs587780612

ATM

0.700

GeneticVariation

CLINVAR

ATM gene variants in patients with idiopathic perifoveal telangiectasia.

18502988

2008

dbSNP:

rs587780612

ATM

0.700

CausalMutation

CLINVAR

ATM gene variants in patients with idiopathic perifoveal telangiectasia.

18502988

2008

dbSNP:

rs587780612

ATM

0.700

CausalMutation

CLINVAR

Comprehensive scanning of the ATM gene with DOVAM-S.

12552559

2003

dbSNP:

rs587780612

ATM

0.700

GeneticVariation

CLINVAR

Comprehensive scanning of the ATM gene with DOVAM-S.

12552559

2003

dbSNP:

rs587780612

ATM

0.700

CausalMutation

CLINVAR

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

10817650

2000

dbSNP:

rs587780612

ATM

0.700

GeneticVariation

CLINVAR

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

10817650

2000

dbSNP:

rs587780612

ATM

0.700

GeneticVariation

CLINVAR

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

10425038

1999

dbSNP:

rs587780612

ATM

0.700

GeneticVariation

CLINVAR

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

10330348

1999

dbSNP:

rs587780612

ATM

0.700

CausalMutation

CLINVAR

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

10330348

1999