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GENE - TERM ANNOTATION REPORT

RGD ID: 1314946
Species: Mus musculus
RGD Object: Gene
Symbol: Nod2
Name: nucleotide-binding oligomerization domain containing 2
Acc ID: DOID:13241
Term: Behcet's disease
Definition: Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.
Definition Source(s): MESH:D001528, http://en.wikipedia.org/wiki/Beh%C3%A7et%27s_disease, http://www.nlm.nih.gov/medlineplus/behcetssyndrome.html
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Behcet's syndrome

 
no_associationISORGD:131494513204711RGDDNA:mutations:cds:p.G908R, p.R702W, p.L1007fsinsC(human)

 
susceptibilityISORGD:13149458158059RGDDNA:snp, insertion:exons:p.R702W, p.L1007insC (human)

 
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.