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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:8778
Term: Crohn's disease
Definition: A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients.
Definition Source(s): MESH:D003424, http://en.wikipedia.org/wiki/Chron%27s_disease
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:13149455508719RGDDNA:missense mutations: :multiple (human)

 
 ISORGD:13149457240710OMIM  
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Crohn's disease

PMID:11385576, PMID:11385577, PMID:11425413, PMID:11910337, PMID:12019468, PMID:12512038, PMID:15024686, PMID:15190267, PMID:15198989, PMID:15571588, PMID:18240302, PMID:18489434, PMID:19713276, PMID:21335489, PMID:21548950, PMID:22684479, PMID:26500656, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Enteritis, Granulomatous

PMID:11385576, PMID:11875755, PMID:12019468, PMID:12512038, PMID:15024686, PMID:15198989, PMID:15571588, PMID:15770725, PMID:15967635, PMID:18240302, PMID:18489434, PMID:18541930, PMID:19713276, PMID:20959815, PMID:21274544, PMID:21548950, PMID:21830272, PMID:21914217, PMID:22684479, PMID:23102769, PMID:24033266, PMID:26070941, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Inflammatory bowel disease 1

 
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Inflammatory bowel disease 1

PMID:11385576, PMID:11875755, PMID:12626759, PMID:14508222, PMID:15044951, PMID:15770725, PMID:25741868, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Inflammatory bowel disease 1

PMID:11385576, PMID:11875755, PMID:12626759, PMID:21983784, PMID:25741868
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Inflammatory bowel disease 1

PMID:25741868
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: REGIONAL ENTERITIS

PMID:11385576, PMID:11385577, PMID:12019468, PMID:12512038, PMID:12557156, PMID:15024686, PMID:15190267, PMID:15198989, PMID:15571588, PMID:18489434, PMID:19713276, PMID:21548950, PMID:21830272, PMID:26070941, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: REGIONAL ENTERITIS

PMID:12577202, PMID:14765395, PMID:15024686, PMID:19467619, PMID:21914217, PMID:23102769, PMID:26070941
 ISORGD:131494511554173CTDCTD Direct Evidence: marker/mechanism

PMID:11385576, PMID:11385577, PMID:11528384, PMID:17435756, PMID:17568627, PMID:18371140, PMID:18438406, PMID:19467619
no_associationISORGD:13149455508730RGDDNA:missense mutations, frameshift mutation: :p.R702W, p.G908R, 3020_3021insC (human)

 
susceptibilityISORGD:13149451600778RGDDNA:frameshift mutation, missense mutations

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