Homocystinuria Gene Set

Dataset	DISEASES Curated Gene-Disease Association Evidence Scores 2025
Category	disease or phenotype associations
Type	disease
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)
Similar Terms
Downloads & Tools

Genes

5 genes involed in the disease Homocystinuria from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Symbol	Name	Standardized Value
MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	5.0
MMADHC	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	5.0
MTHFR	methylenetetrahydrofolate reductase (NAD(P)H)	5.0
CBS	cystathionine-beta-synthase	5.0
MTR	5-methyltetrahydrofolate-homocysteine methyltransferase	5.0