DisGeNET - a database of gene-disease associations

Ataxia Telangiectasia, C0004135

Variant: rs587776551 ×

Source: CLINVAR ×

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:

rs587776551

ATM

0.720

CausalMutation

CLINVAR

Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.

27599564

2016

dbSNP:

rs587776551

ATM

0.720

CausalMutation

CLINVAR

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

22071889

2012

dbSNP:

rs587776551

ATM

0.720

CausalMutation

CLINVAR

New mutations in the ATM gene and clinical data of 25 AT patients.

21965147

2011

dbSNP:

rs587776551

ATM

0.720

CausalMutation

CLINVAR

Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

19691550

2009

dbSNP:

rs587776551

ATM

0.720

CausalMutation

CLINVAR

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

17124347

2006

dbSNP:

rs587776551

ATM

0.720

CausalMutation

CLINVAR

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

9887333

1999

dbSNP:

rs587776551

ATM

0.720

CausalMutation

CLINVAR

Predominance of null mutations in ataxia-telangiectasia.

8845835

1996