DisGeNET - a database of gene-disease associations

Ataxia Telangiectasia, C0004135

Variant: rs876660022 ×

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:

rs876660022

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Novel ATM mutations with ataxia-telangiectasia.

26628246

2016

dbSNP:

rs876660022

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

The ATM signaling network in development and disease.

23532176

2013

dbSNP:

rs876660022

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

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

19781682

2009

dbSNP:

rs876660022

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

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

19691550

2009

dbSNP:

rs876660022

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer.

18813293

2008

dbSNP:

rs876660022

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia.

18560558

2008

dbSNP:

rs876660022

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

10980530

2000

dbSNP:

rs876660022

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Mutations associated with variant phenotypes in ataxia-telangiectasia.

8755918

1996

dbSNP:

rs876660022

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Predominance of null mutations in ataxia-telangiectasia.

8845835

1996