Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease BEFREE Here, we describe the clinical characteristics and underlying genetics of two unrelated girls with moderate developmental delay and dysmorphic features associated with novel mutations in PPM1D exon 5. 30795918 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. 28343630 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. 28343630 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations. 26823519 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma. 26847329 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations. 26823519 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma. 26847329 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 27479843 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 27479843 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging. 24911145 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging. 24911145 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. 23242139 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. 23242139 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Wip1 promotes RUNX2-dependent apoptosis in p53-negative tumors and protects normal tissues during treatment with anticancer agents. 22065775 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR Wip1 promotes RUNX2-dependent apoptosis in p53-negative tumors and protects normal tissues during treatment with anticancer agents. 22065775 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways. 18265945 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways. 18265945 2008