Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype. 11382771 2001
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 CausalMutation group CLINVAR Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype. 11382771 2001
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 CausalMutation group CLINVAR Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history. 11505391 2001
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia. 11298136 2001
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. 11805335 2002
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 CausalMutation group CLINVAR ATM mutations in Finnish breast cancer patients. 11897822 2002
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 CausalMutation group CLINVAR Dominant negative ATM mutations in breast cancer families. 11830610 2002
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 CausalMutation group CLINVAR Breakpoints in the ataxia telangiectasia gene arise at the RGYW somatic hypermutation motif. 11821961 2002
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 CausalMutation group CLINVAR ATM heterozygosity and cancer risk. 12205473 2002
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 CausalMutation group CLINVAR TCL-1, MTCP-1 and TML-1 gene expression profile in non-leukemic clonal proliferations associated with ataxia-telangiectasia. 11857346 2002
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 CausalMutation group CLINVAR ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances. 11756177 2002
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 CausalMutation group CLINVAR A new type of mutation causes a splicing defect in ATM. 11889466 2002
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Early diagnosis of ataxia-telangiectasia using radiosensitivity testing. 12072877 2002
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances. 11756177 2002
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR ATM mutations are associated with inactivation of the ARF-TP53 tumor suppressor pathway in diffuse large B-cell lymphoma. 12149228 2002
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR ATM mutations in Finnish breast cancer patients. 11897822 2002
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 CausalMutation group CLINVAR Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. 12815592 2003
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 CausalMutation group CLINVAR Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer. 12673797 2003
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 CausalMutation group CLINVAR Contributions of ATM mutations to familial breast and ovarian cancer. 12810666 2003
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 CausalMutation group CLINVAR ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity. 14695186 2003
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 CausalMutation group CLINVAR ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects. 12497634 2003
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 CausalMutation group CLINVAR Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia. 12655570 2003
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR The ATRs, ATMs, and TORs are giant HEAT repeat proteins. 12553904 2003
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. 12815592 2003
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Comprehensive scanning of the ATM gene with DOVAM-S. 12552559 2003