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 RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins. 26635394 2016
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. 25122203 2014
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR Cognitive phenotype in ataxia-telangiectasia. 25037873 2014
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. 22213089 2012
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. 22213089 2012
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Clinical spectrum of ataxia-telangiectasia in adulthood. 19535770 2009
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations. 15054841 2004
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 Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530 2000
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. 10873394 2000
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587 1998
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 GeneticVariation CLINVAR A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587 1998