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 CausalMutation disease CLINVAR PIKKs--the solenoid nest where partners and kinases meet. 25460276 2014
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 CausalMutation disease CLINVAR ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. 9711876 1998
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 CausalMutation disease CLINVAR Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer. 12673797 2003
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland. 25330149 2015
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 CausalMutation disease CLINVAR A precocious cerebellar ataxia and frequent Fever episodes in a 16-month-old infant revealing ataxia-telangiectasia syndrome. 25374739 2013
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation 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 CausalMutation disease CLINVAR Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients. 16238588 2005
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 CausalMutation disease CLINVAR Attenuated presentation of ataxia-telangiectasia with familial cancer history. 18575927 2008
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Functional and molecular defects of hiPSC-derived neurons from patients with ATM deficiency. 25032865 2014
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation 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 Cognitive phenotype in ataxia-telangiectasia. 25037873 2014
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. 22213089 2012
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation 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 CausalMutation disease CLINVAR Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways. 21778326 2011
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. 21792198 2011
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. 10873394 2000
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry. 16958054 2006
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype. 15843990 2005