CNTNAP2, contactin associated protein 2, 26047

N. diseases: 30; N. variants: 33
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs802568
rs802568
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004936
Disease:
Mental disorders 		C 0.800 GeneticVariation GWASDB A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
dbSNP: rs802568
rs802568
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0033975
Disease:
Psychotic Disorders 		0.800 GeneticVariation GWASCAT A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
dbSNP: rs802568
rs802568
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0033975
Disease:
Psychotic Disorders 		C 0.800 GeneticVariation GWASDB A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
dbSNP: rs802568
rs802568
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004936
Disease:
Mental disorders 		0.800 GeneticVariation GWASCAT A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
dbSNP: rs114360492
rs114360492
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. 30617256 2019
dbSNP: rs117834366
rs117834366
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0002395
Disease:
Alzheimer's Disease 		A 0.700 GeneticVariation GWASCAT Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project. 31473137 2019
dbSNP: rs117834366
rs117834366
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0011269
Disease:
Dementia, Vascular 		A 0.700 GeneticVariation GWASCAT Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project. 31473137 2019
dbSNP: rs1396313317
rs1396313317
Entrez Id: 26047;107986721
Gene Symbol: CNTNAP2;LOC107986721
CNTNAP2;LOC107986721
CUI: C1510586
Disease:
Autism Spectrum Disorders 		C 0.700 GeneticVariation CLINVAR Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. 30763456 2019
dbSNP: rs190748049
rs190748049
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		T 0.700 GeneticVariation GWASCAT Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. 30670697 2019
dbSNP: rs6944674
rs6944674
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs73453125
rs73453125
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		A 0.700 GeneticVariation GWASCAT Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. 30926973 2019
dbSNP: rs2530313
rs2530313
Entrez Id: 26047;105375554
Gene Symbol: CNTNAP2;LOC105375554
CNTNAP2;LOC105375554
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs2530313
rs2530313
Entrez Id: 26047;105375554
Gene Symbol: CNTNAP2;LOC105375554
CNTNAP2;LOC105375554
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs34088420
rs34088420
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs34438057
rs34438057
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs34930172
rs34930172
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0596887
Disease:
mathematical ability 		G 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs369675346
rs369675346
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0376532
Disease:
Epilepsy, Rolandic 		T 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
dbSNP: rs540694424
rs540694424
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0017601
Disease:
Glaucoma 		C 0.700 GeneticVariation GWASCAT Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. 30104761 2018
dbSNP: rs758630057
rs758630057
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0376532
Disease:
Epilepsy, Rolandic 		A 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
dbSNP: rs802571
rs802571
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.700 GeneticVariation GWASCAT A genome-wide association study of late-onset Alzheimer's disease in a Japanese population. 26049409 2015
dbSNP: rs10255956
rs10255956
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs4549702
rs4549702
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C4049938
Disease:
Physical Activity Measurement 		G 0.700 GeneticVariation GWASCAT Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. 23192594 2013
dbSNP: rs4549702
rs4549702
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C1305855
Disease:
Body mass index 		G 0.700 GeneticVariation GWASCAT Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. 23192594 2013
dbSNP: rs1718101
rs1718101
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004352
Disease:
Autistic Disorder 		0.700 GeneticVariation GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504 2012
dbSNP: rs398124268
rs398124268
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C2750246
Disease:
Pitt-Hopkins-Like Syndrome 1 		A 0.700 CausalMutation CLINVAR Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. 21827697 2011