Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:0050678
Term: Blau syndrome
Definition: An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in mutations in the NOD2/CARD15 genes. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Blau_syndrome, http://www.omim.org/entry/186580?search=186580&highlight=186580
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:13149457240710OMIM  
 ISORGD:13149458554872ClinVarClinVar Annotator: match by OMIM:186580

 
 ISORGD:13149458554872ClinVarClinVar Annotator: match by OMIM:186580

PMID:11385576, PMID:11875755, PMID:12626759, PMID:15459013
 ISORGD:13149458554872ClinVarClinVar Annotator: match by OMIM:186580

PMID:11528384
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:11087742, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

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: Blau syndrome

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: Blau syndrome

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:23806086, PMID:24033266, PMID:24088041, PMID:25687216, PMID:26070941, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:11385576, PMID:11875755, PMID:12115249, PMID:12626759, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:11385576, PMID:11875755, PMID:12115249, PMID:15044951, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:11385576, PMID:11875755, PMID:12626759, PMID:14508222, PMID:15044951, PMID:15770725, PMID:25741868, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:11385576, PMID:11875755, PMID:12626759, PMID:15024686, PMID:24960071, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:11385576, PMID:11875755, PMID:12626759, PMID:21983784, PMID:25741868
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:11385576, PMID:11875755, PMID:12626759, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:11385576, PMID:17698784, PMID:25741868
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:11385576, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:11528384, PMID:14522785, PMID:15044951, PMID:15086578, PMID:15459013, PMID:17157607, PMID:18955195, PMID:22509093, PMID:24713464, PMID:25416713, PMID:28492532, PMID:9124059
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:11528384, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:11875755, PMID:12626759, PMID:21983784, PMID:22942351, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:11875755, PMID:12626759, PMID:26500656, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:11875755, PMID:15459013, PMID:7825454
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:11875755, PMID:16278823, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:11875755, PMID:17941079, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:11875755, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:12115249, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:12577202, PMID:14765395, PMID:15024686, PMID:19467619, PMID:21914217, PMID:23102769, PMID:26070941
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:15024686, PMID:21983784, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:15024686, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:15044951, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:15459013, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:15812565, PMID:18718560, PMID:19479836, PMID:20565245, PMID:25093298, PMID:25136265, PMID:25829188, PMID:27339507, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:16485124, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:17941079, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:18507017, PMID:20230816, PMID:24033266
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:23334666, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:24033266
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:24876985, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:25741868
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:25741868, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:27306066, PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Blau syndrome

PMID:28492532
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Sarcoidosis, early-onset

PMID:11875755
 ISORGD:13149458554872ClinVarClinVar Annotator: match by term: Sarcoidosis, early-onset

PMID:15459013
 ISORGD:131494511554173CTDCTD Direct Evidence: marker/mechanism

PMID:11528384, PMID:15086578, PMID:15459013, PMID:19467619
susceptibilityISORGD:13149458158040RGDDNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)

 
susceptibilityISORGD:13149458158051RGDDNA:snp:cds:p.E383G (human)

 
susceptibilityISORGD:13149458547515RGDDNA:snp:cds:p.E383K (human)

 
susceptibilityISORGD:13149458547518RGDDNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)

 
Go Back to source page   Continue to Ontology report

NHLBI Logo

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