HMNR7_VWA1
- Gene
- VWA1
- Disease
- HMNR7
- Inheritance
- AR
- Classification
- Moderate
- Total Score
- 10
- Publications Reviewed
- 3
- Publication Span
- 0.25 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: 7.5
| Singular Evidence | Probands | PMID:33559681 | 6 | 14 families | ||
| Collective Evidence | Segregation | PMID:33559681 | 1.5 |
2 rows
Experimental evidence
Total: 2.5
| Function | Protein interaction | PMID:38652110 | 0.5 | |||
| Functional Alteration | Patient cells | PMID:39502942 | 2 | muscle cells of many patients |
2 rows