CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs7794745
rs7794745
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004352
Disease:
Autistic Disorder
0.040 GeneticVariation BEFREE The results of this study showed that there is a significant association between rs7794745 CNTNAP2 gene polymorphism and autism in the studied population. 28284582 2017
dbSNP: rs7794745
rs7794745
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004352
Disease:
Autistic Disorder
0.040 GeneticVariation BEFREE One of the most striking interspecies differences with 28% methylation in human and 59% in chimpanzee cortex (by bisulfite pyrosequencing) lies in a region 300 bp upstream of human SNP rs7794745 which has been associated with autism and parent-of-origin effects. 24434791 2014
dbSNP: rs7794745
rs7794745
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004352
Disease:
Autistic Disorder
0.040 GeneticVariation BEFREE Furthermore, we failed to replicate in our sample a previous association finding of two single nucleotide polymorphisms (rs2710102 and rs7794745) in the CNTNAP2 gene with autism. 23277129 2013
dbSNP: rs7794745
rs7794745
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004352
Disease:
Autistic Disorder
0.040 GeneticVariation BEFREE In the current study we investigated the functional effects of variants of CNTNAP2 associated with autism and language impairment (rs7794745 and rs2710102; presumed risk alleles T and C, respectively) in healthy individuals using functional magnetic resonance imaging (fMRI) during performance of a language task (n = 66). 21987501 2011
dbSNP: rs2710102
rs2710102
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004352
Disease:
Autistic Disorder
0.020 GeneticVariation BEFREE Furthermore, we failed to replicate in our sample a previous association finding of two single nucleotide polymorphisms (rs2710102 and rs7794745) in the CNTNAP2 gene with autism. 23277129 2013
dbSNP: rs2710102
rs2710102
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004352
Disease:
Autistic Disorder
0.020 GeneticVariation BEFREE In the current study we investigated the functional effects of variants of CNTNAP2 associated with autism and language impairment (rs7794745 and rs2710102; presumed risk alleles T and C, respectively) in healthy individuals using functional magnetic resonance imaging (fMRI) during performance of a language task (n = 66). 21987501 2011
dbSNP: rs2253031
rs2253031
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004352
Disease:
Autistic Disorder
0.010 GeneticVariation BEFREE In a combined analysis of all families, two highly correlated (r (2) = 0.99) SNPs in intron 14 showed significant association with autism (rs2710093, p = 9.0 x 10(-6); rs2253031, p = 2.5 x 10(-5)). 24147096 2013
dbSNP: rs2710093
rs2710093
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004352
Disease:
Autistic Disorder
0.010 GeneticVariation BEFREE In a combined analysis of all families, two highly correlated (r (2) = 0.99) SNPs in intron 14 showed significant association with autism (rs2710093, p = 9.0 x 10(-6); rs2253031, p = 2.5 x 10(-5)). 24147096 2013
dbSNP: rs10500171
rs10500171
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004352
Disease:
Autistic Disorder
0.010 GeneticVariation BEFREE The results show that a common noncoding variant (rs10500171) is associated with the increased risk for autism, and haplotype T-A (rs7794745- rs10500171, P=0.011) and haplotype A-T-A (rs10244837- rs7794745- rs10500171, P=0.032) also showed evidence of association. 20414140 2010