DM2_CNBP
- Gene
- CNBP
- Disease
- DM2
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 14.5
- Publications Reviewed
- 5
- Publication Span
- 9.33 years
- Last Updated
- 07/21/2025
- Curator(s)
- Laurel Hiatt
Genetic evidence
Total: 8.5
| Singular Evidence | Probands | PMID:14505273 | 6 | 71 families | ||
| Collective Evidence | Allele | PMID:11486088 | 1 | Motif/interruptions differ between disease states; also major difference between pathogenic/nonpathogenic ranges | ||
| Collective Evidence | Segregation | PMID:12970845 | 1.5 | LOD Score (19.521) |
3 rows
Experimental evidence
Total: 6
| Models | Non-human model organism | PMID:28623239 | 2 | Transgenic fly model | ||
| Function | Regulatory Impact | PMID:28623239 | 0.5 | Expression of DM2-106 in Drosophila muscles causes mis-splicing | ||
| Function | Biochemical function | PMID:28623239 | 0.5 | RNA foci aggregates | ||
| Functional Alteration | Non-patient cells | PMID:28623239 | 0.5 | Alteration of retinal cells; disruption of morphology | ||
| Rescue | Rescue in non-human model organism | PMID:28623239 | 2 | Rescue of phenotype with PKR-I | ||
| Function | Regulatory Impact | PMID:20971734 | 0.5 | Persistence of intron 1 sequences from the abnormal allele, decrease in total expression | ||
| Function | Protein interaction | PMID:20971734 | 0.5 | Aberrant Subcellular Localization | ||
| Functional Alteration | Patient cells | PMID:20971734 | 1 | Muscle cells from 16 patients and 10 controls |
8 rows
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.