Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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
|
0.700 | CausalMutation | CLINVAR | Ten new ATM alterations in Polish patients with ataxia-telangiectasia. | 25614872 | 2014 | |||||
Ataxia Telangiectasia
|
0.700 | CausalMutation | CLINVAR | Ten new ATM alterations in Polish patients with ataxia-telangiectasia. | 25614872 | 2014 | |||||
Ataxia Telangiectasia
|
0.700 | CausalMutation | CLINVAR | A precocious cerebellar ataxia and frequent Fever episodes in a 16-month-old infant revealing ataxia-telangiectasia syndrome. | 25374739 | 2013 | |||||
Ataxia Telangiectasia
|
0.700 | CausalMutation | CLINVAR | A precocious cerebellar ataxia and frequent Fever episodes in a 16-month-old infant revealing ataxia-telangiectasia syndrome. | 25374739 | 2013 | |||||
Ataxia Telangiectasia
|
0.700 | CausalMutation | CLINVAR | Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. | 23807571 | 2013 | |||||
Ataxia Telangiectasia
|
0.700 | CausalMutation | CLINVAR | Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. | 21665257 | 2011 | |||||
Ataxia Telangiectasia
|
0.700 | CausalMutation | CLINVAR | Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients. | 21833744 | 2011 | |||||
Ataxia Telangiectasia
|
0.700 | CausalMutation | CLINVAR | Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients. | 21833744 | 2011 | |||||
Ataxia Telangiectasia
|
0.700 | CausalMutation | CLINVAR | ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. | 16266405 | 2005 | |||||
Ataxia Telangiectasia
|
0.700 | CausalMutation | CLINVAR | Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. | 15039971 | 2004 | |||||
Ataxia Telangiectasia
|
0.700 | CausalMutation | CLINVAR | ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch mu region. | 12646636 | 2003 | |||||
Ataxia Telangiectasia
|
0.700 | CausalMutation | CLINVAR | Characterization of ATM gene mutations in 66 ataxia telangiectasia families. | 9887333 | 1999 | |||||
Ataxia Telangiectasia
|
0.700 | CausalMutation | CLINVAR | Characterization of ATM gene mutations in 66 ataxia telangiectasia families. | 9887333 | 1999 | |||||
Ataxia Telangiectasia
|
0.700 | CausalMutation | CLINVAR | Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. | 9443866 | 1998 | |||||
Ataxia Telangiectasia
|
0.700 | CausalMutation | CLINVAR | Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. | 9443866 | 1998 | |||||
Ataxia Telangiectasia
|
0.700 | GeneticVariation | CLINVAR |