Gene: ATM ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 CausalMutation group CLINVAR Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations. 10234507 1999
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 GeneticVariation group CLINVAR In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites. 17726045 2007
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 CausalMutation group CLINVAR A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity. 25077176 2014
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 GeneticVariation group CLINVAR The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. 25122203 2014
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 CausalMutation group CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348 1999
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 CausalMutation group CLINVAR Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia. 18560558 2008
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 CausalMutation group CLINVAR ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes. 10864201 2000
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 GeneticVariation group CLINVAR ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy. 19404735 2010
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 CausalMutation group CLINVAR Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95. 22649200 2012
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 GeneticVariation group CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 GeneticVariation group CLINVAR Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome. 27039262 2016
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 CausalMutation group CLINVAR Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths. 14695534 2004
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 GeneticVariation group CLINVAR A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity. 25077176 2014
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 GeneticVariation group CLINVAR New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy. 10425038 1999
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 CausalMutation group CLINVAR Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. 26182300 2015
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 CausalMutation group CLINVAR Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome. 26220245 2016
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 CausalMutation group CLINVAR Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 25186627 2015
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 CausalMutation group CLINVAR A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia. 9682216 1998
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 GeneticVariation group CLINVAR A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587 1998
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 GeneticVariation group CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835 1996
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 GeneticVariation group CLINVAR Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. 15039971 2004
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 CausalMutation group CLINVAR Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival. 24090759 2013
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 CausalMutation group CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289 2014
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 CausalMutation group CLINVAR ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy. 19404735 2010