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GENE - TERM ANNOTATION REPORT

RGD ID: 733483
Species: Homo sapiens
RGD Object: Gene
Symbol: MTHFR
Name: methylenetetrahydrofolate reductase
Acc ID: DOID:1588
Term: thrombocytopenia
Definition: A blood platelet disease that is characterized by low a platelet count in the blood. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Thrombocytopenia "DO" "DO", http://ghr.nlm.nih.gov/glossary=thrombocytopenia "DO" "DO", http://www.merckmanuals.com/professional/hematology_and_oncology/thrombocytopenia_and_platelet_dysfunction/overview_of_platelet_disorders.html "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)
MTHFR IAGP 10449418RGDassociated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :1298A>C (human) 
MTHFRno_associationIAGP 10449418RGDassociated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human) 
MTHFR EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:19391036
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