Source: GENOMICS_ENGLAND

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 Germline Genetic Predisposition to Hematologic Malignancy. 28297620

2017
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		1.000 Biomarker GENOMICS_ENGLAND Loss of the DNA Damage Repair Kinase ATM Impairs Inflammasome-Dependent Anti-Bacterial Innate Immunity. 27421701

2016
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		1.000 Biomarker GENOMICS_ENGLAND The susceptibility gene for ataxia telangiectasia, ATM, is also an intermediate-risk breast-cancer-susceptibility gene. 19781682

2009
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		1.000 Biomarker GENOMICS_ENGLAND A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587

1998
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		1.000 Biomarker GENOMICS_ENGLAND In marked contrast to the ATM mutation pattern in A-T, the most frequent nucleotide changes in this leukaemia were missense mutations. 9288106

1997
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		1.000 Biomarker GENOMICS_ENGLAND We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10%-15% of A-T families identified in the United Kingdom). 8755918

1996
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		1.000 Biomarker GENOMICS_ENGLAND Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. 2212727

1990
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: C0023418
Disease: leukemia
leukemia 		0.900 Biomarker GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620

2017
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.900 Biomarker GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620

2017
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0334634
Disease: Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse 		0.800 Biomarker GENOMICS_ENGLAND Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. 19781682

2009
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0334634
Disease: Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 Biomarker GENOMICS_ENGLAND We found marginal evidence that the combination of ATM protein-truncating and splice-junction variants contribute to breast cancer risk. 19781682

2009
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0017638
Disease: Glioma
Glioma 		0.600 Biomarker GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620

2017
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.510 Biomarker GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620

2017
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.420 Biomarker GENOMICS_ENGLAND Loss of the DNA Damage Repair Kinase ATM Impairs Inflammasome-Dependent Anti-Bacterial Innate Immunity. 27421701

2016
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0013421
Disease: Dystonia
Dystonia 		0.420 Biomarker GENOMICS_ENGLAND

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0013421
Disease: Dystonia
Dystonia 		0.420 Biomarker GENOMICS_ENGLAND

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1843542
Disease: T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC
T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC 		0.300 Biomarker GENOMICS_ENGLAND Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. 19781682

2009
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1843542
Disease: T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC
T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC 		0.300 Biomarker GENOMICS_ENGLAND