Disease: Ataxia Telangiectasia ×
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
0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
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
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients. 21833744 2011
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history. 11505391 2001
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. 8659541 1996