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GENE - TERM ANNOTATION REPORT

RGD ID: 1307076
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cntnap2
Name: contactin associated protein 2
Acc ID: DOID:12849
Term: autistic disorder
Definition: An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Autism "DO" "DO", http://www.neurodevnet.ca "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Cntnap2no_associationISOCNTNAP2 (Homo sapiens)13450907RGDDNA:SNPs: :rs2710102,rs7794745(human) 
Cntnap2susceptibilityISOCNTNAP2 (Homo sapiens)13450909RGDDNA:SNP: :rs7794745(human) 
Cntnap2 ISOCNTNAP2 (Homo sapiens)7240710OMIM  
Cntnap2 ISOCNTNAP2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:18179894 PMID:18621663 PMID:20157312 PMID:21310003
Cntnap2 ISOCNTNAP2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 15PMID:17576681 PMID:18179893 PMID:18179894 PMID:18179895 PMID:18414213 PMID:19456320 PMID:20711234 PMID:21681106 PMID:22872700 PMID:24807205 PMID:25167861 PMID:25621974 PMID:25741868 PMID:26467025 PMID:27734276 PMID:27747449 PMID:28492532 PMID:29358611 PMID:29788201 PMID:30208311 PMID:31875159 PMID:9536098
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