HDL2_JPH3
- Gene
- JPH3
- Disease
- HDL2
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 15
- Publications Reviewed
- 5
- Publication Span
- 16.13 years
- Last Updated
- 06/04/2025
- Curator(s)
- Laurel Hiatt, Harriet Dashnow
Genetic evidence
Total: 9
| Singular Evidence | Probands | PMID:28339400 | 6 | 69 patients from multiple studies | ||
| Collective Evidence | Allele | PMID:28339400 | 2 | Negative correlation between repeat length and age of onset. Paper is a review review describing all cased in literature up to 2026 | ||
| Collective Evidence | Segregation | PMID:40187026 | 1 | Founder mutation identified |
3 rows
Experimental evidence
Total: 6
| Models | Non-human model organism | PMID:21555070 | 2 | HDL2 mouse model showed polyQ-mediated pathogenesis mechanism | ||
| Models | Non-human model organism | PMID:29208631 | 2 | Drosophila model | ||
| Function | Regulatory Impact | PMID:11694876 | 2 | Splicing impact |
3 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.