Annotation Detail
Information
- Associated Genes
- CNBP
- Associated Variants
-
CNBP MUTATION
CNBP MUTATION - Associated Disease
- Congenital Myotonic Dystrophy
- Source Database
- DisGeNET
- Description
- Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with (CCTG)n repeat expansion in intron 1 of the CNBP gene.
- Pubmed
- 25186227
- Section of the abstract supporting the evidence
- INTRODUCTION
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0135720936040152
Drugs