rs7794745, CNTNAP2

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
AUTISM, SUSCEPTIBILITY TO, 15
CUI: C2677504
Disease: AUTISM, SUSCEPTIBILITY TO, 15
0.700 SusceptibilityMutation CLINVAR
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
0.040 GeneticVariation BEFREE In the updated meta-analysis, the association between the two frequently reported SNPs (rs2710102 and rs7794745) in CNTNAP2 and the risk of ASD was explored. 30681286 2019
Autistic Disorder
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
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
0.040 GeneticVariation BEFREE The results revealed higher frequency distributions statistically significant (P = 0.034) of the homozygous SNP rs7794745 (presumed risk genotype) in ASD patients as compared with control subjects. 26909962 2016
Autistic Disorder
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
Autistic Disorder
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
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
0.040 GeneticVariation BEFREE Five single nucleotide polymorphisms in CNTNAP2 (including rs7794745 and rs2710102, previously associated with ASDs) were genotyped. 21193173 2011
Autistic Disorder
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
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
0.040 GeneticVariation BEFREE A total of 110 adult patients with ASD (n=61) or ADHD (n=49) with or without a lifetime history of SUD participated in a study in which we genotyped polymorphisms in five known candidate genes for (one of) the disorders, i.e. the 5HTTLPR in SLC6A4/5-HTT, rs1800497 (TaqIA C>T) in DRD2, rs7794745 in CNTNAP2, rs1843809 in TPH2, and rs6565113 in CDH13. 20446882 2010
Language Disorders
CUI: C0023015
Disease: Language Disorders
0.010 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
Substance Use Disorders
CUI: C0038586
Disease: Substance Use Disorders
0.010 GeneticVariation BEFREE A total of 110 adult patients with ASD (n=61) or ADHD (n=49) with or without a lifetime history of SUD participated in a study in which we genotyped polymorphisms in five known candidate genes for (one of) the disorders, i.e. the 5HTTLPR in SLC6A4/5-HTT, rs1800497 (TaqIA C>T) in DRD2, rs7794745 in CNTNAP2, rs1843809 in TPH2, and rs6565113 in CDH13. 20446882 2010
Attention deficit hyperactivity disorder
0.010 GeneticVariation BEFREE A total of 110 adult patients with ASD (n=61) or ADHD (n=49) with or without a lifetime history of SUD participated in a study in which we genotyped polymorphisms in five known candidate genes for (one of) the disorders, i.e. the 5HTTLPR in SLC6A4/5-HTT, rs1800497 (TaqIA C>T) in DRD2, rs7794745 in CNTNAP2, rs1843809 in TPH2, and rs6565113 in CDH13. 20446882 2010