Disease: Ataxia Telangiectasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Mutations associated with variant phenotypes in ataxia-telangiectasia. 8755918 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Comparative Study of the Treatment of Tuberculous Cervical Lymphadenitis with Special Reference of Streptomycin, P.A.S. and Isonicotinic Acid Hydrazide. 29015585 1953
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. 25122203 2014
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Cancer risks and mortality in heterozygous ATM mutation carriers. 15928302 2005
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Genotype-phenotype relationships in ataxia-telangiectasia and variants. 9497252 1998
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Comprehensive scanning of the ATM gene with DOVAM-S. 12552559 2003
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188 2009
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Cognitive phenotype in ataxia-telangiectasia. 25037873 2014
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia. 18560558 2008
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy. 10425038 1999
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052 2017
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Ataxia telangiectasia: more variation at clinical and cellular levels. 25040471 2015
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR NMR- and circular dichroism-monitored lipid binding studies suggest a general role for the FATC domain as membrane anchor of phosphatidylinositol 3-kinase-related kinases (PIKK). 23671275 2013
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. 24556621 2014
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. 15039971 2004
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances. 11756177 2002
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families. 15390180 2005
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. 25133958 2014
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Clinical spectrum of ataxia-telangiectasia in adulthood. 19535770 2009
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia. 16864838 2006
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia. 24789685 2014
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348 1999
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins. 26635394 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. 19781682 2009
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650 2000