Annotation Detail
Information
- Associated Genes
- CLPB
- Associated Variants
-
CLPB MUTATION
CLPB MUTATION - Associated Disease
- 3-@METHYLGLUTACONIC ACIDURIA, TYPE I
- Source Database
- DisGeNET
- Description
- CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
- Pubmed
- 25597510
- 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
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs