Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 CausalMutation CLINVAR "Comments on: ""Two Routes for Renal 99mTc-DMSA Uptake into the Renal Cortical Tubular Cell""." 2557216

1989

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 AlteredExpression BEFREE Ataxia telangiectasia (AT) carrier-derived lymphoblastoid cell lines (AT-LCLs/hetero) with suboptimal ATM protein expression were examined for the regulation of radiosensitivity, apoptosis, and mitotic spindle checkpoint in response to DNA-damaging agents. 10363981

1999

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia-telangiectasia is a human syndrome resulting from mutations of the ATM protein kinase that is characterized by radiation sensitivity and neurodegeneration. 11303911

2000

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia-Telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are recessive genetic diseases with similar cellular phenotypes that are caused by mutations in the recently described ATM (encoding ATM) and NBS1 (encoding p95) genes, respectively. 11981817

2002

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia telangiectasia (A-T), an autosomal recessive neuro-immunologic disease with cancer susceptibility, results from ATM gene mutations. 12935922

2003

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia-telangiectasia (A-T) is an autosomal recessive neurological disorder caused by mutations in the ATM gene. 14695534

2004

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia-telangiectasia (A-T) is caused by mutations of the ATM gene, the product of which is involved in the regulation of cellular responses to radiation damage. 15054841

2004

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 AlteredExpression LHGDN Ataxia-telangiectasia (A-T) is a syndrome of cancer susceptibility, immune dysfunction, and neurodegeneration that is caused by mutations in the A-T-mutated (ATM) gene. 15073328

2004

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia telangiectasia (A-T) is a rare cancer-predisposing genetic disease, caused by the lack of functional ATM kinase, a major actor of the double strand brakes (DSB) DNA-damage response. 17932249

2008

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia telangiectasia (AT) is a recessive neurodegenerative disease due to a faulty repair mechanism for breaks in double-stranded DNA (ATM mutation). 18083591

2008

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia-telangiectasia is a rare multisystem neurodegenerative genetic disorder due to mutation of ATM gene. 18504682

2008

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 AlteredExpression BEFREE Ataxia Telangiectasia (A-T) patients have biallelic inactivation of the ATM gene and exhibit a 200-fold-increased frequency of lymphoid tumours. 18573109

2008

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia telangiectasia (AT) is a chromosome instability (CIN) neurological syndrome arising from DNA damage response defects due to ATM gene mutations. 19414482

2009

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia-telangiectasia (A-T) is a rare genetic disease caused by germline biallelic mutations in the ataxia-telangiectasia mutated gene (ATM) that result in partial or complete loss of ATM expression or activity. 21665257

2011

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia telangiectasia (A-T) is one such disease, and is caused by biallelic germline mutation of the Ataxia telangiectasia mutated (ATM) gene. 23266960

2013

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia telangiectasia (AT) is a rare autosomal recessive disease caused by mutations in the ataxia telangiectasia-mutated gene (ATM). 23943852

2013

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 Biomarker BEFREE Ataxia-telangiectasia is a recessive genetic disorder (ATM is the mutated gene) of childhood with severe motor impairments and whereas homozygotes manifest the disorder, heterozygotes are asymptomatic. 24747834

2014

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 Biomarker BEFREE Ataxia telangiectasia is a neurodegenerative inherited disease with chromosomal instability and hypersensitivity to ionizing radiation. iPS cells lacking ATM (AT-iPS cells) exhibited hypersensitivity to X-ray irradiation, one of the characteristics of the disease. 24970375

2014

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia telangiectasia (AT) is caused by a mutation in the ataxia-telangiectasia-mutated (ATM) gene; the condition is associated with hyper-radiosensitivity, abnormal cell-cycle checkpoints, and genomic instability. 25868131

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 Biomarker MGD Ataxia-telangiectasia (A-T) is a rare multi-system disorder caused by mutations in the ATM gene. 26310626

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia-telangiectasia (A-T) is a rare multi-system disorder caused by mutations in the ATM gene. 26310626

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia telangiectasia (AT) is an autosomal recessive disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia and immunodeficiency due to mutations in the ATM gene. 26439923

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia telangiectasia (AT) is an autosomal recessive multisystem genetic disorder caused by a mutation in the ATM gene encoding for the ATM protein. 26564081

2015

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disorder with immunodeficiency and an increased risk of developing cancer, caused by mutations in the ataxia-telangiectasia mutated (ATM) gene. 26662178

2016