rs587779815, ATM

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 CausalMutation CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846 2016
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 CausalMutation CLINVAR Mutational landscape of aggressive cutaneous squamous cell carcinoma. 25303977 2014
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 CausalMutation CLINVAR Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia. 24789685 2014
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 GeneticVariation CLINVAR Cognitive phenotype in ataxia-telangiectasia. 25037873 2014
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 CausalMutation CLINVAR Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse. 23612382 2013
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 GeneticVariation CLINVAR Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse. 23612382 2013
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 GeneticVariation CLINVAR In this study, we report a founder effect of AT with two different mutations: 1339 C > T and 6672 del GG together with 6677 del TACG, found in four Israeli Druze clans originating from three different Druze centers in the Middle East (Lebanon, Syria and Jordan). 15164409 2004
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 GeneticVariation BEFREE In this study, we report a founder effect of AT with two different mutations: 1339 C > T and 6672 del GG together with 6677 del TACG, found in four Israeli Druze clans originating from three different Druze centers in the Middle East (Lebanon, Syria and Jordan). 15164409 2004
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 CausalMutation CLINVAR In this study, we report a founder effect of AT with two different mutations: 1339 C > T and 6672 del GG together with 6677 del TACG, found in four Israeli Druze clans originating from three different Druze centers in the Middle East (Lebanon, Syria and Jordan). 15164409 2004
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 GeneticVariation CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835 1996
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 CausalMutation CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835 1996
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. 28779002 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 28152038 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia. 24789685 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Cognitive phenotype in ataxia-telangiectasia. 25037873 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse. 23612382 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Identification of two mutations for ataxia telangiectasia among the Druze community. 15164409 2004
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835 1996