FAME3_MARCHF6
- Gene
- MARCHF6
- Disease
- FAME3
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 14.5
- Publications Reviewed
- 3
- Publication Span
- 7.25 years
- Last Updated
- 8/12/2025
- 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: 10.5
| Singular Evidence | Probands | PMID:31664039 | 1.5 | 4 families | ||
| Collective Evidence | Allele | PMID:31664039 | 1 | Association between onset and allele size | ||
| Collective Evidence | Segregation | PMID:31664039 | 1.5 | est. LOD over 5 | ||
| Collective Evidence | Computational | PMID:31664039 | 0.5 | |||
| Statistics | Case-Control Data | PMID:31664039 | 6 |
5 rows
Experimental evidence
Total: 4
| Function | Protein interaction | PMID:19616813 | 0.5 | |||
| Function | Regulatory impact | PMID:19616813 | 0.5 | Expression | ||
| Function | Regulatory impact | PMID:31664039 | 0.5 | Varied expression in patients + splicing | ||
| Functional Alteration | Patient cells | PMID:31664039 | 1 | |||
| Functional Alteration | Non-patient cells | PMID:31664039 | 0.5 | |||
| Functional Alteration | Patient cells | PMID:12140665 | 1 |
6 rows