Annotation Detail
Information
- Associated Genes
- LOC102724560
- Associated Variants
-
LOC102724560 MUTATION
LOC102724560 MUTATION - Associated Disease
- intellectual disability
- Source Database
- DisGeNET
- Description
- We present diagnosis of cystathionine beta-synthase (CBS) deficiency in a multiply affected Iranian family with obvious intellectual disability based on whole genome SNP homozygosity mapping.
- Pubmed
- 25455305
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs