Annotation Detail
Information
- Associated Genes
- CLPB
- Associated Variants
-
CLPB MUTATION
CLPB MUTATION - Associated Disease
- intellectual disability
- Source Database
- DisGeNET
- Description
- Taken together, mutations in CLPB define a syndrome with intellectual disability, congenital neutropenia, progressive brain atrophy, movement disorder, cataracts, and 3-methylglutaconic aciduria.
- Pubmed
- 25597510
- 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
- 8
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs