Annotation Detail
Information
- Associated Genes
- CLPB
- Associated Variants
-
CLPB MUTATION
CLPB MUTATION - Associated Disease
- Neonatal encephalopathy
- Source Database
- DisGeNET
- Description
- Altogether, our study suggests that disruption of CLPB causes a novel form of neonatal encephalopathy associated with 3-methylglutaconic aciduria.
- Pubmed
- 25650066
- Section of the abstract supporting the evidence
- CONCLUSIONS
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 11
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs