Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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 Prevalence and architecture of de novo mutations in developmental disorders. 28135719 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: rs1555648564
rs1555648564
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0000772
Disease:
Multiple congenital anomalies
A 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0432072
Disease:
Dysmorphic features
G 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 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: C0026827
Disease:
Muscle hypotonia
G 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 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 PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations. 26823519 2016
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 Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma. 26847329 2016
dbSNP: rs1555648564
rs1555648564
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0000772
Disease:
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
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: rs1555648564
rs1555648564
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 GeneticVariation CLINVAR PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations. 26823519 2016
dbSNP: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0026827
Disease:
Muscle hypotonia
G 0.700 CausalMutation CLINVAR Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma. 26847329 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: C0432072
Disease:
Dysmorphic features
G 0.700 CausalMutation CLINVAR Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma. 26847329 2016
dbSNP: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0026827
Disease:
Muscle hypotonia
G 0.700 CausalMutation CLINVAR PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations. 26823519 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
dbSNP: rs747947002
rs747947002
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0432072
Disease:
Dysmorphic features
G 0.700 CausalMutation CLINVAR PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations. 26823519 2016
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