NRXN1, neurexin 1, 9378

N. diseases: 139; N. variants: 41
Disease: Speech Delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.320 GeneticVariation disease BEFREE Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1) gene are associated with a wide spectrum of developmental and neuropsychiatric disorders, including intellectual disability, speech delay, autism spectrum disorders (ASDs), hypotonia and schizophrenia. 22617343 2012
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.320 Biomarker disease CTD_human Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. 20157312 2011
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.320 GeneticVariation disease BEFREE Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. 20162629 2010