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 Ataxia telangiectasia: more variation at clinical and cellular levels. 25040471 2015
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. 21792198 2011
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Transposable elements in disease-associated cryptic exons. 19823873 2010
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity. 15174027 2004
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype. 11382771 2001
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations. 10234507 1999
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348 1999
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. 9463314 1998
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR Mutations associated with variant phenotypes in ataxia-telangiectasia. 8755918 1996
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.700 CausalMutation CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599 1996