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 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: 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 Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542 2017
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 		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
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.810 GeneticVariation UNIPROT A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599 1996
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 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 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 The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. 8589678 1995
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.810 GeneticVariation UNIPROT Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain. 9450874 1998
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.810 GeneticVariation UNIPROT Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia. 9043869 1996
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.810 GeneticVariation UNIPROT Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms. 9150358 1997
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 		0.810 GeneticVariation UNIPROT Genotype-phenotype relationships in ataxia-telangiectasia and variants. 9497252 1998
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.810 GeneticVariation UNIPROT Predominance of null mutations in ataxia-telangiectasia. 8845835 1996
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.810 GeneticVariation UNIPROT 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 A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587 1998
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 		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 		0.810 GeneticVariation UNIPROT A single ataxia telangiectasia gene with a product similar to PI-3 kinase. 7792600 1995
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.810 GeneticVariation UNIPROT Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia. 8789452 1996
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.810 GeneticVariation UNIPROT Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866 1998
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.810 GeneticVariation UNIPROT ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. 9792409 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 in patients with ataxia telangiectasia screened by a hierarchical strategy. 9711876 1998