DisGeNET - a database of gene-disease associations

Ataxia Telangiectasia, C0004135

Variant: rs55861249 ×

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:

rs55861249

ATM

0.700

CausalMutation

CLINVAR

Improving performance of multigene panels for genomic analysis of cancer predisposition.

26845104

2016

dbSNP:

rs55861249

ATM

0.700

CausalMutation

CLINVAR

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.

21665257

2011

dbSNP:

rs55861249

ATM

0.700

CausalMutation

CLINVAR

Ataxia telangiectasia-mutated dependent DNA damage checkpoint functions regulate gene expression in human fibroblasts.

17699107

2007

dbSNP:

rs55861249

ATM

0.700

CausalMutation

CLINVAR

Functional consequences of ATM sequence variants for chromosomal radiosensitivity.

15101044

2004

dbSNP:

rs55861249

ATM

0.700

CausalMutation

CLINVAR

Chromium (VI) activates ataxia telangiectasia mutated (ATM) protein. Requirement of ATM for both apoptosis and recovery from terminal growth arrest.

12637545

2003

dbSNP:

rs55861249

ATM

0.700

CausalMutation

CLINVAR

Predominance of null mutations in ataxia-telangiectasia.

8845835

1996

dbSNP:

rs55861249

ATM

0.700

CausalMutation

CLINVAR

Ataxia-telangiectasia: founder effect among north African Jews.

8968760

1996