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: 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: 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: 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: 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: 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: 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