FAME1_SAMD12
- Gene
- SAMD12
- Disease
- FAME1
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 12
- Publications Reviewed
- 5
- Publication Span
- 6.84 years
- Last Updated
- 08/14/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Genetic evidence
Total: 10
| Singular Evidence | Probands | PMID:39569876 | 6 | |
| Collective Evidence | Allele | PMID:39569876 | 2 | (TTTCA)exp counts were inversely correlated with the age at onset for cortical tremor and epilepsy |
| Collective Evidence | Computational | PMID:32203200 | 0.5 | |
| Collective Evidence | Segregation | PMID:30194086 PMID:29939203 | 1.5 |
4 rows
Experimental evidence
Total: 2
| Function | Biochemical function | PMID:29507423 | 1 | RNA and transc reg |
| Function | Protein interaction | PMID:29507423 | 1 | decrease + mutant |
2 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.