ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801516
rs1801516
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0025202
Disease:
melanoma 		0.810 GeneticVariation GWASCAT Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542 2017
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.810 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052 2017
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.810 CausalMutation CLINVAR Detection of novel germline mutations for breast cancer in non-BRCA1/2 families. 26094658 2015
dbSNP: rs1801516
rs1801516
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0025202
Disease:
melanoma 		0.810 GeneticVariation BEFREE Finally, rs1801516, located on the ATM gene, showed a trend towards a protective role in MM similar to the one firstly described in a GWAS study. 23537197 2013
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.810 GeneticVariation CLINVAR Computational refinement of functional single nucleotide polymorphisms associated with ATM gene. 22529920 2012
dbSNP: rs1801516
rs1801516
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0025202
Disease:
melanoma 		0.810 GeneticVariation GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787 2011
dbSNP: rs1801516
rs1801516
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0025202
Disease:
melanoma 		0.810 GeneticVariation GWASCAT Genome-wide association study identifies three new melanoma susceptibility loci. 21983787 2011
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.810 GeneticVariation CLINVAR Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia. 21459046 2011
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.810 GeneticVariation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188 2009
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.810 GeneticVariation UNIPROT Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188 2009
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.810 GeneticVariation CLINVAR Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients. 18573109 2008
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.810 CausalMutation CLINVAR Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients. 18573109 2008
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.810 GeneticVariation CLINVAR Functional consequences of ATM sequence variants for chromosomal radiosensitivity. 15101044 2004
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.810 CausalMutation CLINVAR Functional consequences of ATM sequence variants for chromosomal radiosensitivity. 15101044 2004
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.810 GeneticVariation CLINVAR The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized. 12552566 2003
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.810 CausalMutation CLINVAR The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized. 12552566 2003
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.810 GeneticVariation BEFREE The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized. 12552566 2003
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.810 GeneticVariation UNIPROT Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650 2000
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.810 GeneticVariation CLINVAR Mantle cell lymphoma is characterized by inactivation of the ATM gene. 10706620 2000
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.810 GeneticVariation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650 2000
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.810 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650 2000
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.810 GeneticVariation UNIPROT Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333 1999
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.810 GeneticVariation UNIPROT Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations. 10234507 1999
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.810 GeneticVariation CLINVAR Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980 1998
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.810 GeneticVariation UNIPROT ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. 9463314 1998