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GENE - TERM ANNOTATION REPORT

RGD ID: 12336564
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: MBL1
Name: mannose binding lectin 1
Acc ID: DOID:341
Term: peripheral vascular disease
Definition: A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Peripheral_vascular_disease "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)
MBL1susceptibilityISOMBL2 (Homo sapiens)9068941RGDassociated with Mucocutaneous Lymph Node Syndrome; DNA:mutations:5' utr, exon:g.-221G>C, p.G54N (human)PMID:15295097 REF_RGD_ID:1582151
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