Annotation Detail
Information
- Associated Genes
- CBS
- Associated Variants
-
CBS MUTATION
CBS MUTATION - Associated Disease
- Cystathionine beta-Synthase Deficiency Disease
- Source Database
- DisGeNET
- Description
- Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase.
- Pubmed
- 22738154
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.327524427548128
- Year of publication
- 2012
Drugs