NRXN1, neurexin 1, 9378

N. diseases: 139; N. variants: 41
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768913131
rs768913131
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE A recent study reported that a mutation of neuroligin-3 (NL3), an X-linked gene, was found in siblings with autistic spectrum disorder in which two affected brothers had a point mutation that substituted a Cys for Arg451. 15152050 2004