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GENE - TERM ANNOTATION REPORT

RGD ID: 12095632
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: NOD2
Name: nucleotide binding oligomerization domain containing 2
Acc ID: DOID:0050887
Term: Townes-Brocks syndrome
Definition: A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome "DO" "DO", http://www.omim.org/entry/107480 "DO" "DO", http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple "DO" "DO", PMID:12925729 "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)
NOD2 ISONOD2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Townes syndromePMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 PMID:23069192 PMID:25336016 PMID:28492532 PMID:9973281
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