methylmalonic aciduria and homocystinuria type cblc Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description 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. (Human Disease Ontology, DOID_0050715)
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Genes

6 genes co-occuring with the disease methylmalonic aciduria and homocystinuria type cblc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 1.42849
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase 1.17249
FABP3 fatty acid binding protein 3, muscle and heart 0.542767
CD46 CD46 molecule, complement regulatory protein 0.498467
MMD monocyte to macrophage differentiation-associated 0.368888
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 0.300894