Annotation Detail
Information
- Associated Genes
- CNBP
- Associated Variants
-
CNBP MUTATION
CNBP MUTATION - Associated Disease
- Congenital Myotonic Dystrophy
- Source Database
- DisGeNET
- Description
- Here, we report a patient with an 8 kb CCTG expansion in intron 1 of the CNBP gene, a mutation characteristic of myotonic dystrophy type 2 (DM2), whose first manifestation was idiopathic eosinophilic myositis.
- Pubmed
- 25443993
- 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
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0135720936040152
Drugs