ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Disease: Ataxia Telangiectasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747727055
rs747727055
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: rs747727055
rs747727055
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.800 GeneticVariation CLINVAR Newborn screening for SCID identifies patients with ataxia telangiectasia. 23264026 2013
dbSNP: rs747727055
rs747727055
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: rs747727055
rs747727055
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.800 GeneticVariation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188 2009
dbSNP: rs747727055
rs747727055
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.800 GeneticVariation CLINVAR Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. 18634022 2009
dbSNP: rs747727055
rs747727055
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.800 GeneticVariation CLINVAR Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. 10873394 2000