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GENE - TERM ANNOTATION REPORT

RGD ID: 1314946
Species: Mus musculus
RGD Object: Gene
Symbol: Nod2
Name: nucleotide-binding oligomerization domain containing 2
Acc ID: DOID:0050715
Term: methylmalonic aciduria and homocystinuria type cblC
Definition: A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. (DO)
Definition Source(s): http://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
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