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GENE - TERM ANNOTATION REPORT

RGD ID: 735777
Species: Homo sapiens
RGD Object: Gene
Symbol: SCN1A
Name: sodium voltage-gated channel alpha subunit 1
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)
SCN1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autistic disorderPMID:12566275 PMID:16199547 PMID:17347258 PMID:18930999 PMID:20522430 PMID:22071555 PMID:22409937 PMID:23934111 PMID:25741868 PMID:28148630 PMID:28492532 PMID:29190809 PMID:32581362
SCN1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autistic disorderPMID:14672992 PMID:17347258 PMID:28492532 PMID:32581362
SCN1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autistic disorderPMID:11254445 PMID:12610651 PMID:19200853 PMID:19522081 PMID:23195492 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611
SCN1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autistic disorderPMID:12610651 PMID:25741868 PMID:28492532
SCN1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autistic disorderPMID:12610651 PMID:28492532
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