rs1064797099
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
A
0.700
CausalMutation
CLINVAR
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
28343630
2017
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Dysmorphic features
A
0.700
GeneticVariation
CLINVAR
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
24267886
2013
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Multiple congenital anomalies
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
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
24267886
2013
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Dysmorphic features
A
0.700
GeneticVariation
CLINVAR
Prevalence and architecture of de novo mutations in developmental disorders.
28135719
2017
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.
26823519
2016
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Dysmorphic features
A
0.700
GeneticVariation
CLINVAR
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
23242139
2013
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
27479843
2016
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Dysmorphic features
A
0.700
GeneticVariation
CLINVAR
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
28343630
2017
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Dysmorphic features
A
0.700
GeneticVariation
CLINVAR
Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma.
26847329
2016
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Dysmorphic features
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
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Dysmorphic features
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
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
23242139
2013
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Multiple congenital anomalies
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
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma.
26847329
2016
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging.
24911145
2014
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Dysmorphic features
A
0.700
GeneticVariation
CLINVAR
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
27479843
2016
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
Prevalence and architecture of de novo mutations in developmental disorders.
28135719
2017
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Dysmorphic features
A
0.700
GeneticVariation
CLINVAR
The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways.
18265945
2008
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Dysmorphic features
A
0.700
GeneticVariation
CLINVAR
PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.
26823519
2016
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways.
18265945
2008
rs1555648564
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Dysmorphic features
A
0.700
GeneticVariation
CLINVAR
Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging.
24911145
2014
rs189669693
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
A
0.700
CausalMutation
CLINVAR
rs1064797100
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
AC
0.700
CausalMutation
CLINVAR