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 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 Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting. 25480502

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening. 26296696

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland. 25330149

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective. 26439923

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. 25503501

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis. 26491069

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation 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 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR HBOC multi-gene panel testing: comparison of two sequencing centers. 26022348

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR ATM gene mutations in sporadic breast cancer patients from Brazil. 25625042

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage? 26693373

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Clinical variability in ataxia-telangiectasia. 25957637

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Spontaneous ATM Gene Reversion in A-T iPSC to Produce an Isogenic Cell Line. 26677768

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report. 26380989

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. 26270727

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR T-cell ALL in ataxia telangiectasia cured with only 7 weeks of anti-leukemic therapy. 24663073

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation 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 Myoclonus in ataxia-telangiectasia. 25793145

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Class switch recombination process in ataxia telangiectasia patients with elevated serum levels of IgM. 24568663

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation 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 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. 25122203

2014

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation 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