rs7214509
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Blood urea nitrogen measurement
T
0.700
GeneticVariation
GWASCAT
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
31152163
2019
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
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
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
Multiple congenital anomalies
A
0.700
GeneticVariation
CLINVAR
Prevalence and architecture of de novo mutations in developmental disorders.
28135719
2017
rs747947002
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Prevalence and architecture of de novo mutations in developmental disorders.
28135719
2017
rs747947002
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
28343630
2017
rs747947002
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Prevalence and architecture of de novo mutations in developmental disorders.
28135719
2017
rs747947002
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Dysmorphic features
G
0.700
CausalMutation
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
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
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
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
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
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
PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.
26823519
2016
rs747947002
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma.
26847329
2016
rs747947002
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
27479843
2016
rs747947002
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma.
26847329
2016
rs747947002
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.
26823519
2016
rs747947002
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
27479843
2016
rs747947002
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Dysmorphic features
G
0.700
CausalMutation
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
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
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
25356970
2015
rs747947002
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Dysmorphic features
G
0.700
CausalMutation
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
rs747947002
×
Entrez Id:
8493
Gene Symbol:
PPM1D
PPM1D
Muscle hypotonia
G
0.700
CausalMutation
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