Annotation Detail
Information
- Associated Genes
- CBS
- Associated Variants
-
CBS MUTATION
CBS MUTATION - Associated Disease
- Homocysteinemia
- Source Database
- DisGeNET
- Description
- In this review we highlight the importance of homocysteinemia by describing the genes encoding for enzymes of homocysteine metabolism relevant to the clinical practice, especially cystathionine-β-synthase and methylenetetrahydrofolate reductase mutations, and the impairment of related metabolites levels.
- Pubmed
- 25087163
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 5
- Original source reporting the Gene Disease association
- BeFree,MGD
- DisGENET score for the Gene Disease association
- 0.0886861399065697
Drugs