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: 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 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 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 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 		T 0.810 GeneticVariation CLINVAR ATM is usually rearranged in T-cell prolymphocytic leukaemia. 9488043 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 		T 0.810 CausalMutation 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 in patients with ataxia telangiectasia screened by a hierarchical strategy. 9711876 1998
dbSNP: rs587782292
rs587782292
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.810 GeneticVariation CLINVAR Biallelic mutations in the ATM gene in T-prolymphocytic leukemia. 9334731 1997
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 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 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 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 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 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 A single ataxia telangiectasia gene with a product similar to PI-3 kinase. 7792600 1995
dbSNP: rs121434216
rs121434216
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052 2017
dbSNP: rs397514577
rs397514577
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052 2017
dbSNP: rs587779872
rs587779872
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052 2017
dbSNP: rs587781302
rs587781302
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT 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 		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 Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052 2017
dbSNP: rs587782202
rs587782202
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052 2017
dbSNP: rs786202826
rs786202826
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052 2017