Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064797098
rs1064797098
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C4479517
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 		AG 0.700 CausalMutation CLINVAR
dbSNP: rs1064797099
rs1064797099
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C4479517
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1064797100
rs1064797100
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C4479517
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 		AC 0.700 CausalMutation CLINVAR
dbSNP: rs1555649009
rs1555649009
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C4479517
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1567977657
rs1567977657
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C4479517
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 		T 0.700 CausalMutation CLINVAR
dbSNP: rs189669693
rs189669693
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C4479517
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 		A 0.700 CausalMutation CLINVAR
dbSNP: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C4479517
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 		G 0.700 CausalMutation CLINVAR
dbSNP: rs765769406
rs765769406
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C4479517
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555648564
rs1555648564
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0432072
Disease:
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
dbSNP: rs1555648564
rs1555648564
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0000772
Disease:
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
dbSNP: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways. 18265945 2008
dbSNP: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways. 18265945 2008
dbSNP: rs1555648564
rs1555648564
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0432072
Disease:
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
dbSNP: rs1555648564
rs1555648564
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0000772
Disease:
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
dbSNP: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0432072
Disease:
Dysmorphic features 		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: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
dbSNP: rs1555648564
rs1555648564
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
dbSNP: rs1555648564
rs1555648564
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. 23242139 2013
dbSNP: rs1555648564
rs1555648564
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. 23242139 2013
dbSNP: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
dbSNP: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
dbSNP: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. 23242139 2013
dbSNP: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. 23242139 2013
dbSNP: rs1555648564
rs1555648564
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging. 24911145 2014