Annotation Detail
Information
- Associated Genes
- CBS
- Associated Variants
-
CBS MUTATION
CBS MUTATION - Associated Disease
- homocystinuria
- Source Database
- DisGeNET
- Description
- Altered hepatic sulfur metabolism in cystathionine β-synthase-deficient homocystinuria: regulatory role of taurine on competing cysteine oxidation pathways.
- Pubmed
- 24891521
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.155731976157741
Drugs