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 GeneticVariation 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 GeneticVariation CLINVAR Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. 19781682 2009
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188 2009
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR TCL-1, MTCP-1 and TML-1 gene expression profile in non-leukemic clonal proliferations associated with ataxia-telangiectasia. 11857346 2002
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650 2000
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980 1998
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. 8659541 1996