homocystinuria Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. (Human Disease Ontology, DOID_9263)
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Genes

5 genes co-occuring with the biological term homocystinuria in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
CBS cystathionine-beta-synthase
FBN1 fibrillin 1
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase