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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:9003871
Term: Venous Thrombosis
Definition: The formation or presence of a blood clot (THROMBUS) within a vein.
Definition Source(s): MESH:D020246
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)1580590RGDDNA:transition:cds:g.677C>T (human) 
Mthfrno_associationISOMTHFR (Homo sapiens)6893655RGDDNA:transition:cds:g.677C>T (human) 
Mthfrno_associationISOMTHFR (Homo sapiens)10449394RGDDNA:transition: :677C>T (human) 
MthfrsusceptibilityISOMTHFR (Homo sapiens)6893602RGDassociated with Lupus Erythematosus, Systemic; DNA:transition, transversion:cds:g.677C>T rs1801133, g.1298A>C rs1801131 (human) 
Mthfr ISOMTHFR (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:19123085
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