Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Severe radiotoxicity in an allogeneic transplant recipient with a heterozygous ATM mutation. 24935205

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Ataxia telangiectasia: more variation at clinical and cellular levels. 25040471

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980

1998

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. 25572163

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Development of a high risk pancreatic screening clinic using 3.0 T MRI. 29101607

2018

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Ataxia-telangiectasia: founder effect among north African Jews. 8968760

1996

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Biallelic ATM inactivation significantly reduces survival in patients treated on the United Kingdom Leukemia Research Fund Chronic Lymphocytic Leukemia 4 trial. 23091097

2012

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Detection of novel germline mutations for breast cancer in non-BRCA1/2 families. 26094658

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. 18634022

2009

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms. 9150358

1997

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR JPred4: a protein secondary structure prediction server. 25883141

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Prevalence of deleterious ATM germline mutations in gastric cancer patients. 26506520

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Contributions of ATM mutations to familial breast and ovarian cancer. 12810666

2003

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR ATM mutations in Finnish breast cancer patients. 11897822

2002

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel. 9450906

1998

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. 23632773

2013

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 26976419

2016

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia. 22146522

2012

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse. 23612382

2013

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Ataxia-telangiectasia with female fertility. 25914063

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. 19691550

2009