NRXN1, neurexin 1, 9378

N. diseases: 139; N. variants: 41
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004936
Disease: Mental disorders
Mental disorders
0.030 GeneticVariation group BEFREE The two deletions upstream of the NRXN1 gene were found to segregate with psychiatric disorders in the family and further similar deletions have been observed in patients diagnosed with autism spectrum disorder. 26563496 2015
CUI: C0004936
Disease: Mental disorders
Mental disorders
0.030 GeneticVariation group BEFREE The observations suggest a possible gene-dose effect of NRXN1 mutations on type and severity of mental illness and support the notion that the penetrance and pleiotropy of pathogenic CNVs in general are determined by additional genetic variants in the genome. 22337556 2012
CUI: C0004936
Disease: Mental disorders
Mental disorders
0.030 GeneticVariation group BEFREE The breakpoint at 2p was within the NRXN1 gene that has previously been associated with autism, intellectual disabilities, and psychiatric disorders. 21739571 2011