NRXN1, neurexin 1, 9378

N. diseases: 20; N. variants: 26
Source: CURATED ×
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: 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: 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: 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
dbSNP: rs11681792
rs11681792
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0236664
Disease:
Alcohol-Related Disorders 		A 0.700 GeneticVariation GWASCAT A genome-wide association study of behavioral disinhibition. 23942779 2013
dbSNP: rs11681792
rs11681792
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0001973
Disease:
Alcoholic Intoxication, Chronic 		A 0.700 GeneticVariation GWASCAT A genome-wide association study of behavioral disinhibition. 23942779 2013
dbSNP: rs11681792
rs11681792
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0236970
Disease:
Alcohol-Induced Disorders 		A 0.700 GeneticVariation GWASCAT A genome-wide association study of behavioral disinhibition. 23942779 2013
dbSNP: rs1553368900
rs1553368900
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0856975
Disease:
Autistic behavior 		A 0.700 GeneticVariation CLINVAR Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. 23533028 2013
dbSNP: rs1476850082
rs1476850082
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C3280479
Disease:
PITT-HOPKINS-LIKE SYNDROME 2 		G 0.700 GeneticVariation CLINVAR Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis. 25149956 2014
dbSNP: rs771759988
rs771759988
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C3280479
Disease:
PITT-HOPKINS-LIKE SYNDROME 2 		T 0.700 GeneticVariation CLINVAR Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis. 25149956 2014
dbSNP: rs1014667
rs1014667
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C1519383
Disease:
Smoking Behaviors 		0.700 GeneticVariation GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
dbSNP: rs1014667
rs1014667
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0037369
Disease:
Smoking 		0.700 GeneticVariation GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
dbSNP: rs115249811
rs115249811
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C3548479
Disease:
response to bronchodilator 		C 0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
dbSNP: rs10174398
rs10174398
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C1305855
Disease:
Body mass index 		C 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
dbSNP: rs12476120
rs12476120
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018