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GENE - TERM ANNOTATION REPORT

RGD ID: 8807813
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Scn8a
Name: sodium voltage-gated channel alpha subunit 8
Acc ID: DOID:630
Term: genetic disease
Definition: A disease that has_material_basis_in genetic variations in the human genome. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/ "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)
Scn8a ISOSCN8A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:10798388 PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 PMID:19254928 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:24194747 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25326635 PMID:25326637 PMID:25568300 PMID:25666757 PMID:25725044 PMID:25741868 PMID:25785782 PMID:26029160 PMID:26220391 PMID:26235739 PMID:26467025 PMID:26680202 PMID:26900580 PMID:26993267 PMID:27165006 PMID:27779742 PMID:27875746 PMID:28492532 PMID:28702509 PMID:28735751 PMID:28923014 PMID:29100083 PMID:29186148 PMID:29356177 PMID:29588952 PMID:29720203 PMID:29924869 PMID:29933521 PMID:30171078 PMID:30615093 PMID:31026061 PMID:31054490 PMID:31335965 PMID:31715021 PMID:31887642 PMID:32040247 PMID:32651551 PMID:33004838 PMID:33201365 PMID:34431999
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