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
0.710 GeneticVariation BEFREE The sibling with ataxia telangiectasia revealed a homozygous p.Arg2993Stop (c.8977C>T) null mutation in the ATM gene. 30339652 2019
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 CausalMutation CLINVAR A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene. 23774824 2013
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 GeneticVariation CLINVAR Molecular defects in Moroccan patients with ataxia-telangiectasia. 23322442 2013
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 CausalMutation CLINVAR Molecular defects in Moroccan patients with ataxia-telangiectasia. 23322442 2013
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 CausalMutation CLINVAR ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele. 21933854 2012
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 CausalMutation CLINVAR Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia. 20840352 2011
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 GeneticVariation CLINVAR Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia. 20840352 2011
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 GeneticVariation CLINVAR Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. 19691550 2009
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 CausalMutation CLINVAR DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations. 17124347 2006
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 CausalMutation CLINVAR Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients. 16238588 2005
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 GeneticVariation CLINVAR Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients. 16238588 2005
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 GeneticVariation CLINVAR Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. 12815592 2003
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.710 CausalMutation CLINVAR Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. 12815592 2003