NRXN1, neurexin 1, 9378

N. diseases: 139; N. variants: 41
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.060 GeneticVariation disease BEFREE NRXN1 copy number variation is a rare genetic factor commonly shared among autism spectrum disorder (ASD), schizophrenia, intellectual disability, epilepsy and developmental delay. 31759289 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.060 GeneticVariation disease BEFREE We identified 41 (0.21%) previously unreported exonic NRXN1 deletions ascertained for developmental delay/intellectual disability that were significantly greater than in controls (odds ratio (OR) = 8.14; 95% confidence interval (CI): 2.91-22.72; P < 0.0001). 27195815 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.060 GeneticVariation disease BEFREE The intragenic NRXN1 deletion is thought to explain his developmental delay via a separate genetic mechanism. 26590955 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.060 GeneticVariation disease BEFREE Exonic deletions in NRXN1 have been associated with several neurodevelopmental disorders, including autism, schizophrenia and developmental delay. 23536886 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.060 GeneticVariation disease BEFREE Generally, most individuals with NRXN1 exonic deletions have developmental delay (particularly speech), abnormal behaviors, and mild dysmorphic features. 23495017 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.060 GeneticVariation disease BEFREE Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters. 21964664 2011