DisGeNET - a database of gene-disease associations

Ataxia Telangiectasia, C0004135

Variant: rs786203489 ×

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:

rs786203489

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Novel ATM mutations with ataxia-telangiectasia.

26628246

2016

dbSNP:

rs786203489

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.

23774824

2013

dbSNP:

rs786203489

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia.

20840352

2011

dbSNP:

rs786203489

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:

rs786203489

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients.

16238588

2005

dbSNP:

rs786203489

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

12815592

2003

dbSNP:

rs786203489

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Mutations associated with variant phenotypes in ataxia-telangiectasia.

8755918

1996