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GENE - TERM ANNOTATION REPORT

RGD ID: 1551392
Species: Mus musculus
RGD Object: Gene
Symbol: Mthfr
Name: methylenetetrahydrofolate reductase
Acc ID: DOID:13001
Term: carotid stenosis
Definition: Narrowing or stricture of any part of the CAROTID ARTERIES, most often due to atherosclerotic plaque formation. Ulcerations may form in atherosclerotic plaques and induce THROMBUS formation. Platelet or cholesterol emboli may arise from stenotic carotid lesions and induce a TRANSIENT ISCHEMIC ATTACK; CEREBROVASCULAR ACCIDENT; or temporary blindness (AMAUROSIS FUGAX). (From Adams et al., Principles of Neurology, 6th ed, pp 822-3)
Definition Source(s): MESH:D016893
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)
Mthfr ISOMTHFR (Homo sapiens)5509914RGDDNA:SNP:CDS:rs1801133, c.677C>T, p.A222V, in men only (human) 
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