Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE ×
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: C4310643
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 		0.700 Biomarker disease GENOMICS_ENGLAND De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
CUI: C4310643
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in HECW2 are associated with intellectual disability and epilepsy. 27334371 2016
CUI: C4310643
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 		0.700 Biomarker disease CTD_human
CUI: C4310643
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4310643
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 		0.700 CausalMutation disease CLINVAR