NME_NAXE
- Gene
- NAXE
- Disease
- NME
- Inheritance
- AR
- Classification
- Limited
- Total Score
- 6
- Publications Reviewed
- 1
- Publication Span
- Last Updated
- 08/12/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Genetic evidence
Total: 2
| Singular Evidence | Probands | PMID:39455596 | 1.5 | |
| Collective Evidence | Computational | PMID:39455596 | 0.5 | highly polymorphic |
2 rows
Experimental evidence
Total: 4
| Function | Biochemical function | PMID:39455596 | 0.5 | Changes in RNA-binding and translational impacts |
| Function | Protein interaction | PMID:39455596 | 0.5 | reduced protein |
| Function | Regulatory impact | PMID:39455596 | 1.5 | expression, splicing, hypermethylation |
| Functional Alteration | Patient cells | PMID:39455596 | 1 | |
| Functional Alteration | Non-patient cells | PMID:39455596 | 0.5 | control fibroplasts |
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.