Annotation Detail
Information
- Associated Genes
- COASY
- Associated Variants
-
COASY MUTATION
COASY MUTATION - Associated Disease
- Neurodegeneration with brain iron accumulation (NBIA)
- Source Database
- DisGeNET
- Description
- Mutations in PANK2 and CoASY, both implicated in CoA biosynthesis that acts as a fatty acyl carrier, lead, respectively, to PKAN and CoPAN forms of NBIA.
- Pubmed
- 25668476
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 5
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs