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 "Comments on: ""Two Routes for Renal 99mTc-DMSA Uptake into the Renal Cortical Tubular Cell""." 2557216 1989
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587 1998
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587 1998
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease 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
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease 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
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer. 18807267 2009
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 A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia. 18431795 2008
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR A single ataxia telangiectasia gene with a product similar to PI-3 kinase. 7792600 1995
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity. 25077176 2014
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity. 15174027 2004
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma. 27159176 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. 27913932 2017
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Analysis of the ATM protein in wild-type and ataxia telangiectasia cells. 9000145 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827 2018
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Ataxia telangiectasia mutated-deficient B-cell chronic lymphocytic leukemia occurs in pregerminal center cells and results in defective damage response and unrepaired chromosome damage. 11756185 2002
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. 23946315 2013
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 Ataxia telangiectasia: more variation at clinical and cellular levels. 25040471 2015
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Ataxia telangiectasia: the consequences of a delayed diagnosis. 21354641 2011
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Ataxia-telangiectasia with female fertility. 25914063 2015
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain. 9450874 1998
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer. 18813293 2008