OPMD
- Gene
- PABPN1
- Disease
- OPMD
- Inheritance
- AD/AR
- Classification
- Definitive
- Total Score
- 15
- Publications Reviewed
- 6
- Publication Span
- 24.24 years
- Last Updated
- 8/14/25
- Curator(s)
- Macayla Weiner, Laurel Hiatt
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.
Genetic evidence
Total: 12
| Singular Evidence | Probands | PMID:35112761 | 6 | |||
| Collective Evidence | Allele | PMID:28011929 PMID:9392020 | 2 | |||
| Collective Evidence | Segregation | PMID:11087766 | 1.5 | |||
| Statistics | Case-control data | PMID:28011929 | 6 | |||
| Collective Evidence | Allele | PMID:37090934 PMID:37371433 | 0 | Disputed with pmid:37371433 evidence saying no relationship |
5 rows
Experimental evidence
Total: 3
| Function | Biochemical function | PMID:9462747 | 0.5 | |||
| Function | Protein interaction | PMID:9462747 | 0.5 | |||
| Function | Regulatory Impact | PMID:9462747 | 0.5 | |||
| Functional Alteration | Patient cells | PMID:9462747 | 1 | |||
| Functional Alteration | Non-patient cells | PMID:9462747 | 0.5 |
5 rows