Annotation Detail
Information
- Associated Genes
- CNBP
- Associated Variants
-
CNBP MUTATION
CNBP MUTATION - Associated Disease
- Myotonic dystrophy
- Source Database
- DisGeNET
- Description
- Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)n repeat expansion in intron 1 of CNBP.
- Pubmed
- 24907641
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- 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,CTD_human,GAD
- DisGENET score for the Gene Disease association
- 0.1385775994333
Drugs