Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234398
Disease: Visual Cortex Disorder
Visual Cortex Disorder 		0.010 GeneticVariation disease BEFREE Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation. 29395664 2018
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.010 AlteredExpression disease BEFREE HECW2, a HECT-type E3 ubiquitin ligase, is transcriptionally upregulated in HeLa cells expressing Emery-Dreifuss muscular dystrophy-causing-lamin A mutants. 29753763 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 GeneticVariation phenotype 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: C0014544
Disease: Epilepsy
Epilepsy 		0.010 Biomarker disease BEFREE In combination with previously published exome sequencing results in neurodevelopmental disorders, our analysis implicates HECW2 as a novel candidate gene in ID and epilepsy. 27334371 2016
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 AlteredExpression disease BEFREE Elevated expression of NEDL2 protein and mRNA are both found in colon cancer and cervix cancer. 24163370 2013
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 AlteredExpression disease BEFREE Elevated expression of NEDL2 protein and mRNA are both found in colon cancer and cervix cancer. 24163370 2013
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 AlteredExpression disease BEFREE Elevated expression of NEDL2 protein and mRNA are both found in colon cancer and cervix cancer. 24163370 2013
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 AlteredExpression disease BEFREE Elevated expression of NEDL2 protein and mRNA are both found in colon cancer and cervix cancer. 24163370 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE These SNPs are in or near genes that are highly expressed in the brain (HECW2, HIP1, BIN2, GRIA1), genes involved in neural development and function (KCNQ4, LMO4, GRIA1, NETO1) and autophagy (ATG4C), and genes that are associated with risk of various diseases including cancer and Alzheimer's disease. 21782286 2011
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.020 GeneticVariation group BEFREE This study implicates pathogenic genetic variants in HECW2 as potential causes of neurodevelopmental disorders in humans. 27389779 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.020 Biomarker group BEFREE This study adds knowledge to the increasingly growing list of causative and candidate genes in ID and epilepsy and highlights HECW2 as a new candidate gene for neurodevelopmental disorders. 27334371 2016
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: 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype 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 Mutations in HECW2 are associated with intellectual disability and epilepsy. 27334371 2016
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 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 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 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: 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: 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