| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.100 | CausalMutation | CLINVAR | "Comments on: ""Two Routes for Renal 99mTc-DMSA Uptake into the Renal Cortical Tubular Cell""." | 2557216 | 1989 |
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0.100 | GeneticVariation | CLINVAR | A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. | 9521587 | 1998 |
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0.100 | CausalMutation | CLINVAR | A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. | 9521587 | 1998 |
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0.100 | GeneticVariation | CLINVAR | A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. | 8808599 | 1996 |
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0.100 | CausalMutation | CLINVAR | A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. | 8808599 | 1996 |
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0.100 | 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 |
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0.100 | GeneticVariation | 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 |
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0.100 | CausalMutation | CLINVAR | A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer. | 18807267 | 2009 |
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0.100 | CausalMutation | CLINVAR | A precocious cerebellar ataxia and frequent Fever episodes in a 16-month-old infant revealing ataxia-telangiectasia syndrome. | 25374739 | 2013 |
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0.100 | CausalMutation | CLINVAR | A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia. | 18431795 | 2008 |
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0.100 | CausalMutation | CLINVAR | A single ataxia telangiectasia gene with a product similar to PI-3 kinase. | 7792600 | 1995 |
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0.100 | CausalMutation | 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 |
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0.100 | CausalMutation | CLINVAR | Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity. | 15174027 | 2004 |
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0.100 | CausalMutation | CLINVAR | Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma. | 27159176 | 2016 |
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0.100 | CausalMutation | CLINVAR | Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. | 27913932 | 2017 |
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0.100 | GeneticVariation | CLINVAR | Analysis of the ATM protein in wild-type and ataxia telangiectasia cells. | 9000145 | 1996 |
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0.100 | CausalMutation | CLINVAR | Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. | 29922827 | 2018 |
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0.100 | CausalMutation | 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 |
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0.100 | CausalMutation | CLINVAR | Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. | 23946315 | 2013 |
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0.100 | CausalMutation | CLINVAR | Ataxia telangiectasia: more variation at clinical and cellular levels. | 25040471 | 2015 |
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0.100 | GeneticVariation | CLINVAR | Ataxia telangiectasia: more variation at clinical and cellular levels. | 25040471 | 2015 |
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0.100 | CausalMutation | CLINVAR | Ataxia telangiectasia: the consequences of a delayed diagnosis. | 21354641 | 2011 |
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0.100 | CausalMutation | CLINVAR | Ataxia-telangiectasia with female fertility. | 25914063 | 2015 |
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0.100 | CausalMutation | CLINVAR | Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain. | 9450874 | 1998 |
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0.100 | CausalMutation | CLINVAR | Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer. | 18813293 | 2008 |