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GENE - TERM ANNOTATION REPORT

RGD ID: 69368
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Scn9a
Name: sodium voltage-gated channel alpha subunit 9
Acc ID: DOID:0111537
Term: paroxysmal extreme pain disorder
Definition: An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17145499 "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)
Scn9a ISOSCN9A (Homo sapiens)7240710OMIM  
Scn9a ISOSCN9A (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:17145499 PMID:17679678
Scn9a ISOSCN9A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Paroxysmal extreme pain disorder | ClinVar Annotator: match by term: RECTAL PAIN, FAMILIALPMID:15955112 PMID:17145499 PMID:18414213 PMID:18518989 PMID:18599537 PMID:19369487 PMID:19633428 PMID:19763161 PMID:20038812 PMID:20301342 PMID:20478850 PMID:21094958 PMID:21115638 PMID:21698661 PMID:21939494 PMID:22035805 PMID:22136189 PMID:22539570 PMID:22604722 PMID:22826602 PMID:22995991 PMID:23129781 PMID:23280954 PMID:23292638 PMID:23450472 PMID:23874707 PMID:23895530 PMID:24033266 PMID:24088041 PMID:24776970 PMID:24817410 PMID:24820863 PMID:24848745 PMID:25250524 PMID:25316021 PMID:25333069 PMID:25741868 PMID:25852444 PMID:25993546 PMID:26264438 PMID:26284228 PMID:26392352 PMID:26467025 PMID:26633545 PMID:26675522 PMID:26920677 PMID:27301361 PMID:27504264 PMID:27525141 PMID:27608006 PMID:27843123 PMID:27884173 PMID:27956748 PMID:28073787 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29176367 PMID:29264398 PMID:29358611 PMID:29500686 PMID:29653220 PMID:29911575 PMID:29961513 PMID:30316835 PMID:30392441 PMID:30478917 PMID:30554136 PMID:30569495 PMID:30642272 PMID:30834459 PMID:31193310 PMID:31394368 PMID:31780880 PMID:33216760
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