Disease: Ataxia Telangiectasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555151928
rs1555151928
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.700 CausalMutation CLINVAR Novel ATM mutations with ataxia-telangiectasia. 26628246 2016
dbSNP: rs1555151928
rs1555151928
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.700 CausalMutation CLINVAR Requirement of the FATC domain of protein kinase Tel1 for localization to DNA ends and target protein recognition. 26246601 2015
dbSNP: rs1555151928
rs1555151928
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.700 CausalMutation CLINVAR NMR- and circular dichroism-monitored lipid binding studies suggest a general role for the FATC domain as membrane anchor of phosphatidylinositol 3-kinase-related kinases (PIKK). 23671275 2013
dbSNP: rs1555151928
rs1555151928
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.700 CausalMutation CLINVAR Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. 19691550 2009
dbSNP: rs1555151928
rs1555151928
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.700 CausalMutation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188 2009
dbSNP: rs1555151928
rs1555151928
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.700 CausalMutation CLINVAR Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia. 18560558 2008
dbSNP: rs1555151928
rs1555151928
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.700 CausalMutation CLINVAR The FATC domains of PIKK proteins are functionally equivalent and participate in the Tip60-dependent activation of DNA-PKcs and ATM. 16603769 2006
dbSNP: rs1555151928
rs1555151928
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.700 CausalMutation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530 2000
dbSNP: rs1555151928
rs1555151928
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.700 CausalMutation CLINVAR Mutations associated with variant phenotypes in ataxia-telangiectasia. 8755918 1996