Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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A | 0.700 | GeneticVariation | CLINVAR | Prevalence and architecture of de novo mutations in developmental disorders. | 28135719 | 2017 |
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A | 0.700 | GeneticVariation | CLINVAR | De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. | 28343630 | 2017 |
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A | 0.700 | GeneticVariation | CLINVAR | Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma. | 26847329 | 2016 |
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A | 0.700 | GeneticVariation | CLINVAR | Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. | 27479843 | 2016 |
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A | 0.700 | GeneticVariation | CLINVAR | PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations. | 26823519 | 2016 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. | 25356970 | 2015 |
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A | 0.700 | GeneticVariation | CLINVAR | Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging. | 24911145 | 2014 |
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A | 0.700 | GeneticVariation | CLINVAR | Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. | 24267886 | 2013 |
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A | 0.700 | GeneticVariation | CLINVAR | Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. | 23242139 | 2013 |
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A | 0.700 | GeneticVariation | CLINVAR | Wip1 promotes RUNX2-dependent apoptosis in p53-negative tumors and protects normal tissues during treatment with anticancer agents. | 22065775 | 2012 |
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A | 0.700 | GeneticVariation | CLINVAR | The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways. | 18265945 | 2008 |