Variant: rs747947002 

    present in Gene: PPM1D
    present in Chromosome: 17
    Position on Chromosome: 60656795
    Alleles of this Variant: AA/-;A;AAA

rs747947002 in PPM1D gene and Dysmorphic features PMID 28343630 2017 De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 26847329 2016 Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma.

PMID 22065775 2012 Wip1 promotes RUNX2-dependent apoptosis in p53-negative tumors and protects normal tissues during treatment with anticancer agents.

PMID 26823519 2016 PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.

PMID 24911145 2014 Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

PMID 23242139 2013 Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.

PMID 18265945 2008 The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

rs747947002 in PPM1D gene and Muscle hypotonia PMID 26847329 2016 Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma.

PMID 23242139 2013 Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.

PMID 24911145 2014 Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 26823519 2016 PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

PMID 28343630 2017 De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

PMID 18265945 2008 The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways.

PMID 22065775 2012 Wip1 promotes RUNX2-dependent apoptosis in p53-negative tumors and protects normal tissues during treatment with anticancer agents.