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: rs7214509
rs7214509
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0005845
Disease:
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
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: 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: rs1555648564
rs1555648564
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0000772
Disease:
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
dbSNP: rs1555648564
rs1555648564
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0432072
Disease:
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
dbSNP: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0026827
Disease:
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
dbSNP: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0432072
Disease:
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
dbSNP: rs1555648564
rs1555648564
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0000772
Disease:
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
dbSNP: rs1555648564
rs1555648564
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0432072
Disease:
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
dbSNP: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0432072
Disease:
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
dbSNP: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0026827
Disease:
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
dbSNP: rs1555648564
rs1555648564
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0000772
Disease:
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
dbSNP: rs1555648564
rs1555648564
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 27479843 2016
dbSNP: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 27479843 2016