×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
GeneticVariation
disease
BEFREE
Here, we describe the clinical characteristics and underlying genetics of two unrelated girls with moderate developmental delay and dysmorphic features associated with novel mutations in PPM1D exon 5.
30795918
2019
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
GeneticVariation
disease
CLINVAR
Prevalence and architecture of de novo mutations in developmental disorders.
28135719
2017
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
CausalMutation
disease
CLINVAR
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
28343630
2017
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
GeneticVariation
disease
CLINVAR
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
28343630
2017
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
CausalMutation
disease
CLINVAR
Prevalence and architecture of de novo mutations in developmental disorders.
28135719
2017
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
GeneticVariation
disease
CLINVAR
PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.
26823519
2016
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
CausalMutation
disease
CLINVAR
Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma.
26847329
2016
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
CausalMutation
disease
CLINVAR
PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.
26823519
2016
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
GeneticVariation
disease
CLINVAR
Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma.
26847329
2016
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
GeneticVariation
disease
CLINVAR
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
27479843
2016
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
CausalMutation
disease
CLINVAR
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
27479843
2016
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
GeneticVariation
disease
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
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
CausalMutation
disease
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
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
CausalMutation
disease
CLINVAR
Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging.
24911145
2014
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
GeneticVariation
disease
CLINVAR
Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging.
24911145
2014
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
GeneticVariation
disease
CLINVAR
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
23242139
2013
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
CausalMutation
disease
CLINVAR
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
24267886
2013
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
GeneticVariation
disease
CLINVAR
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
24267886
2013
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
CausalMutation
disease
CLINVAR
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
23242139
2013
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
CausalMutation
disease
CLINVAR
Wip1 promotes RUNX2-dependent apoptosis in p53-negative tumors and protects normal tissues during treatment with anticancer agents.
22065775
2012
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
GeneticVariation
disease
CLINVAR
Wip1 promotes RUNX2-dependent apoptosis in p53-negative tumors and protects normal tissues during treatment with anticancer agents.
22065775
2012
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
CausalMutation
disease
CLINVAR
The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways.
18265945
2008
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
0.110
GeneticVariation
disease
CLINVAR
The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways.
18265945
2008