rs2710102, CNTNAP2

N. diseases: 12
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
0.030 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
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
0.030 GeneticVariation BEFREE We analyzed the SNPs (rs7794745 and rs2710102) in the CNTNAP2 gene of 210 individuals with idiopathic ASD and 200 non-autistic individuals by polymerase chain reaction-restriction fragment length polymorphism. 26909962 2016
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
0.030 GeneticVariation BEFREE Although association was found with rs2710102, the risk allele (a) for the traits studied here is the nonrisk allele for ASD and specific language impairment. 21193173 2011
Autistic Disorder
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
Autistic Disorder
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
Mental disorders
CUI: C0004936
Disease: Mental disorders
0.010 GeneticVariation BEFREE The association of proposed functional SNPs rs7794745 and rs2710102, reported to influence brain connectivity, was not replicated; nor did predicted functional SNPs yield significant results in meta-analysis across psychiatric disorders at either SNP-level or gene-level. 30586385 2018
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
0.010 GeneticVariation BEFREE The association of proposed functional SNPs rs7794745 and rs2710102, reported to influence brain connectivity, was not replicated; nor did predicted functional SNPs yield significant results in meta-analysis across psychiatric disorders at either SNP-level or gene-level. 30586385 2018
Major Depressive Disorder
CUI: C1269683
Disease: Major Depressive Disorder
0.010 GeneticVariation BEFREE We found that the genotypes of rs17236239 were significantly associated with schizophrenia and the alleles of rs2710102 and rs2710117 were significantly associated with major depression. 23123147 2013
Unipolar Depression
CUI: C0041696
Disease: Unipolar Depression
0.010 GeneticVariation BEFREE We found that the genotypes of rs17236239 were significantly associated with schizophrenia and the alleles of rs2710102 and rs2710117 were significantly associated with major depression. 23123147 2013
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.010 GeneticVariation BEFREE We found that the genotypes of rs17236239 were significantly associated with schizophrenia and the alleles of rs2710102 and rs2710117 were significantly associated with major depression. 23123147 2013
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
Specific language impairment
CUI: C0454651
Disease: Specific language impairment
0.010 GeneticVariation BEFREE Although association was found with rs2710102, the risk allele (a) for the traits studied here is the nonrisk allele for ASD and specific language impairment. 21193173 2011
Selective mutism specific to childhood and adolescence
0.010 GeneticVariation BEFREE Analyses revealed nominal significance (p = .018) for association of SM with rs2710102, which, with rs6944808, was part of a common haplotype associated with SM (permutation p = .022). 21193173 2011
Selective Mutism
CUI: C0236818
Disease: Selective Mutism
0.010 GeneticVariation BEFREE Analyses revealed nominal significance (p = .018) for association of SM with rs2710102, which, with rs6944808, was part of a common haplotype associated with SM (permutation p = .022). 21193173 2011