| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.100 | CausalMutation | CLINVAR | Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. | 22345219 | 2012 |
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0.100 | GeneticVariation | CLINVAR | Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. | 23632773 | 2013 |
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0.100 | CausalMutation | CLINVAR | Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. | 23632773 | 2013 |
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0.100 | CausalMutation | CLINVAR | Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients. | 16238588 | 2005 |
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0.100 | GeneticVariation | CLINVAR | Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients. | 16238588 | 2005 |
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0.100 | GeneticVariation | CLINVAR | Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations. | 22071889 | 2012 |
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0.100 | CausalMutation | CLINVAR | Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations. | 22071889 | 2012 |
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0.100 | CausalMutation | CLINVAR | Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. | 26915675 | 2016 |
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0.100 | CausalMutation | CLINVAR | Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. | 23807571 | 2013 |
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0.100 | GeneticVariation | CLINVAR | Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. | 23807571 | 2013 |
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0.100 | CausalMutation | CLINVAR | Transposable elements in disease-associated cryptic exons. | 19823873 | 2010 |
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0.100 | GeneticVariation | CLINVAR | The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. | 25122203 | 2014 |
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0.100 | CausalMutation | CLINVAR | The FATC domains of PIKK proteins are functionally equivalent and participate in the Tip60-dependent activation of DNA-PKcs and ATM. | 16603769 | 2006 |
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0.100 | GeneticVariation | CLINVAR | The FATC domains of PIKK proteins are functionally equivalent and participate in the Tip60-dependent activation of DNA-PKcs and ATM. | 16603769 | 2006 |
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0.100 | CausalMutation | CLINVAR | The ATM signaling network in development and disease. | 23532176 | 2013 |
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0.100 | CausalMutation | CLINVAR | Ten new ATM alterations in Polish patients with ataxia-telangiectasia. | 25614872 | 2014 |
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0.100 | GeneticVariation | CLINVAR | Ten new ATM alterations in Polish patients with ataxia-telangiectasia. | 25614872 | 2014 |
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0.100 | GeneticVariation | CLINVAR | TCL-1, MTCP-1 and TML-1 gene expression profile in non-leukemic clonal proliferations associated with ataxia-telangiectasia. | 11857346 | 2002 |
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0.100 | CausalMutation | CLINVAR | Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. | 9872980 | 1998 |
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0.100 | GeneticVariation | CLINVAR | Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. | 9872980 | 1998 |
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0.100 | GeneticVariation | CLINVAR | Spontaneous ATM Gene Reversion in A-T iPSC to Produce an Isogenic Cell Line. | 26677768 | 2015 |
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0.100 | GeneticVariation | CLINVAR | Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. | 10330348 | 1999 |
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0.100 | CausalMutation | CLINVAR | Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. | 10330348 | 1999 |
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0.100 | GeneticVariation | CLINVAR | Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia. | 10397742 | 1999 |
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0.100 | GeneticVariation | CLINVAR | Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations. | 15054841 | 2004 |