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: rs1558507406
rs1558507406
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C3808494
Disease:
CHROMOSOME 2p16.3 DELETION SYNDROME
CCCGT 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs199546979
rs199546979
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0028754
Disease:
Obesity
A 0.700 GeneticVariation CLINVAR
dbSNP: rs267606922
rs267606922
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C3280479
Disease:
PITT-HOPKINS-LIKE SYNDROME 2
C 0.700 CausalMutation CLINVAR
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
dbSNP: rs768913131
rs768913131
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0004352
Disease:
Autistic Disorder
0.010 GeneticVariation BEFREE The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing. 15152050 2004
dbSNP: rs768913131
rs768913131
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0524528
Disease:
Pervasive Development Disorder
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
dbSNP: rs12618157
rs12618157
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.700 GeneticVariation GWASDB Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. 17362836 2007
dbSNP: rs10490165
rs10490165
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0027404
Disease:
Narcolepsy
0.700 GeneticVariation GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
dbSNP: rs1476850082
rs1476850082
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C3280479
Disease:
PITT-HOPKINS-LIKE SYNDROME 2
G 0.700 GeneticVariation CLINVAR CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. 19896112 2009
dbSNP: rs771759988
rs771759988
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C3280479
Disease:
PITT-HOPKINS-LIKE SYNDROME 2
T 0.700 GeneticVariation CLINVAR CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. 19896112 2009
dbSNP: rs1356888
rs1356888
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0023980
Disease:
Longevity
0.800 GeneticVariation GWASCAT Joint influence of small-effect genetic variants on human longevity. 20834067 2010
dbSNP: rs1356888
rs1356888
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0023980
Disease:
Longevity
0.800 GeneticVariation GWASDB Joint influence of small-effect genetic variants on human longevity. 20834067 2010
dbSNP: rs1476850082
rs1476850082
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C3280479
Disease:
PITT-HOPKINS-LIKE SYNDROME 2
G 0.700 GeneticVariation CLINVAR Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters. 21964664 2011
dbSNP: rs771759988
rs771759988
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C3280479
Disease:
PITT-HOPKINS-LIKE SYNDROME 2
T 0.700 GeneticVariation CLINVAR Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters. 21964664 2011
dbSNP: rs1045881
rs1045881
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE The rs1045881 variant was not significantly associated with schizophrenia (N=302 case-control pairs), but with clozapine response (N=163; p=0.030). 21890328 2011
dbSNP: rs10490168
rs10490168
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE Our results showed that four SNPs of NRXN1 gene were significantly associated with schizophrenia (rs10490168: G > A, p = 0.017; rs2024513: A > G, p = 0.006; rs13382584: T > C, p = 0.009; and rs1558852: G > A, p = 0.031). 21477380 2011
dbSNP: rs112638127
rs112638127
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE Since I1068V was observed in a single patient, it is impossible to exclude the possibility that I1068V makes a minor contribution to schizophrenia susceptibility. 21288692 2011
dbSNP: rs13382584
rs13382584
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE Our results showed that four SNPs of NRXN1 gene were significantly associated with schizophrenia (rs10490168: G > A, p = 0.017; rs2024513: A > G, p = 0.006; rs13382584: T > C, p = 0.009; and rs1558852: G > A, p = 0.031). 21477380 2011
dbSNP: rs1558852
rs1558852
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE Our results showed that four SNPs of NRXN1 gene were significantly associated with schizophrenia (rs10490168: G > A, p = 0.017; rs2024513: A > G, p = 0.006; rs13382584: T > C, p = 0.009; and rs1558852: G > A, p = 0.031). 21477380 2011
dbSNP: rs2024513
rs2024513
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE Our results showed that four SNPs of NRXN1 gene were significantly associated with schizophrenia (rs10490168: G > A, p = 0.017; rs2024513: A > G, p = 0.006; rs13382584: T > C, p = 0.009; and rs1558852: G > A, p = 0.031). 21477380 2011
dbSNP: rs1553368900
rs1553368900
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0856975
Disease:
Autistic behavior
A 0.700 GeneticVariation CLINVAR Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. 22617343 2012
dbSNP: rs6754640
rs6754640
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0039474
Disease:
Temperament
A 0.700 GeneticVariation GWASDB A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales. 22832960 2012
dbSNP: rs2303298
rs2303298
Entrez Id: 9378;101927089
Gene Symbol: NRXN1;LOC101927089
NRXN1;LOC101927089
CUI: C0004352
Disease:
Autistic Disorder
0.010 GeneticVariation BEFREE Interestingly, there was a statistically significant association of neurexin-1 SNP P300P (rs2303298) with risk of autism (26.2% vs. 13.8%; χ(2) = 22.487; p = 3.45E-006; OR = 2.152 (1.559-2.970)). 22405623 2012
dbSNP: rs930752
rs930752
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0852733
Disease:
Completed Suicide
0.010 GeneticVariation BEFREE We hypothesized that DNA variants affecting neurodevelopment such as rs4307059 (CDH10/CDH9), rs930752 (NRXN1), rs6265 (BDNF) or rs10868235 (NTRK2) may predispose to completed suicide. 22846907 2012
dbSNP: rs11681792
rs11681792
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0001948
Disease:
Alcohol consumption
A 0.700 GeneticVariation GWASCAT A genome-wide association study of behavioral disinhibition. 23942779 2013