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: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia. 8789452 1996
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia. 9043869 1996
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		G 0.800 GeneticVariation CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052 2017
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT Genotype-phenotype relationships in ataxia-telangiectasia and variants. 9497252 1998
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333 1999
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. 9711876 1998
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT Predominance of null mutations in ataxia-telangiectasia. 8845835 1996
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587 1998
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350 2014
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain. 9450874 1998
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		G 0.800 GeneticVariation CLINVAR SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs. 23652012 2013
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 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: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		G 0.800 GeneticVariation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650 2000
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. 9792409 1998
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866 1998
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650 2000
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599 1996
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 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: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT A single ataxia telangiectasia gene with a product similar to PI-3 kinase. 7792600 1995
dbSNP: rs587781511
rs587781511
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980 1998