| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores |
| 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 | |
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5 genes involed in the disease homocystinuria from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
| Symbol | Name |
|---|---|
| CBS | cystathionine-beta-synthase |
| MMADHC | methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria |
| MTHFR | methylenetetrahydrofolate reductase (NAD(P)H) |
| MTR | 5-methyltetrahydrofolate-homocysteine methyltransferase |
| MTRR | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
