Gene: PPM1D ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555648564
rs1555648564
PPM1D
A 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
dbSNP: rs1555648564
rs1555648564
PPM1D
A 0.700 GeneticVariation CLINVAR De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. 28343630

2017
dbSNP: rs747947002
rs747947002
PPM1D
G 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
dbSNP: rs747947002
rs747947002
PPM1D
G 0.700 CausalMutation CLINVAR De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. 28343630

2017
dbSNP: rs1555648564
rs1555648564
PPM1D
A 0.700 GeneticVariation CLINVAR Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 27479843

2016
dbSNP: rs1555648564
rs1555648564
PPM1D
A 0.700 GeneticVariation CLINVAR Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma. 26847329

2016
dbSNP: rs1555648564
rs1555648564
PPM1D
A 0.700 GeneticVariation CLINVAR PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations. 26823519

2016
dbSNP: rs747947002
rs747947002
PPM1D
G 0.700 CausalMutation CLINVAR PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations. 26823519

2016
dbSNP: rs747947002
rs747947002
PPM1D
G 0.700 CausalMutation CLINVAR Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 27479843

2016
dbSNP: rs747947002
rs747947002
PPM1D
G 0.700 CausalMutation CLINVAR Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma. 26847329

2016
dbSNP: rs1555648564
rs1555648564
PPM1D
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
dbSNP: rs747947002
rs747947002
PPM1D
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
dbSNP: rs1555648564
rs1555648564
PPM1D
A 0.700 GeneticVariation CLINVAR Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging. 24911145

2014
dbSNP: rs747947002
rs747947002
PPM1D
G 0.700 CausalMutation CLINVAR Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging. 24911145

2014
dbSNP: rs1555648564
rs1555648564
PPM1D
A 0.700 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1555648564
rs1555648564
PPM1D
A 0.700 GeneticVariation CLINVAR Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. 23242139

2013
dbSNP: rs747947002
rs747947002
PPM1D
G 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs747947002
rs747947002
PPM1D
G 0.700 CausalMutation CLINVAR Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. 23242139

2013
dbSNP: rs1555648564
rs1555648564
PPM1D
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
dbSNP: rs747947002
rs747947002
PPM1D
G 0.700 CausalMutation CLINVAR Wip1 promotes RUNX2-dependent apoptosis in p53-negative tumors and protects normal tissues during treatment with anticancer agents. 22065775

2012
dbSNP: rs1555648564
rs1555648564
PPM1D
A 0.700 GeneticVariation CLINVAR The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways. 18265945

2008
dbSNP: rs747947002
rs747947002
PPM1D
G 0.700 CausalMutation CLINVAR The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways. 18265945

2008