Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310643
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 		0.700 GeneticVariation disease UNIPROT De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 GeneticVariation group BEFREE In this study, we performed whole exome sequencing on a large cohort of patients with ID or neurodevelopmental delay and identified four novel de novo predicted deleterious missense variants in HECW2 in six probands with ID/developmental delay and hypotonia. 27389779 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 GeneticVariation group BEFREE Recently, HECW2 mutations were detected in patients with ID and growth development disorders. 29395664 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE In this study, we performed whole exome sequencing on a large cohort of patients with ID or neurodevelopmental delay and identified four novel de novo predicted deleterious missense variants in HECW2 in six probands with ID/developmental delay and hypotonia. 27389779 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition. 24163370 2013
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR NEDL2 is an essential regulator of enteric neural development and GDNF/Ret signaling. 25555806 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. 16179223 2005
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Mutations in HECW2 are associated with intellectual disability and epilepsy. 27334371 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Excess of rare, inherited truncating mutations in autism. 25961944 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition. 24163370 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Excess of rare, inherited truncating mutations in autism. 25961944 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR NEDL2 is an essential regulator of enteric neural development and GDNF/Ret signaling. 25555806 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Mutations in HECW2 are associated with intellectual disability and epilepsy. 27334371 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. 16179223 2005