Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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 Biomarker group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group HPO