OPMD_PABPN1
- Gene
- PABPN1
- Disease
- OPMD
- Inheritance
- AD/AR
- Classification
- Definitive
- Total Score
- 15
- Publications Reviewed
- 7
- Publication Span
- 25.7 years
- Last Updated
- 08/14/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
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
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.