XDP_TAF1
- Gene
- TAF1
- Disease
- XDP
- Inheritance
- XR
- Classification
- Definitive
- Total Score
- 13.5
- Publications Reviewed
- 7
- Publication Span
- 5.34 years
- Last Updated
- 8/14/2025
- 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: 9.5
| Singular Evidence | Probands | PMID:30973967 | 6 | |||
| Collective Evidence | Allele | PMID:29229810 PMID:38835911 PMID:35395816 | 2 | |||
| Collective Evidence | Segregation | PMID:29229810 PMID:7668293 | 1.5 |
3 rows
Experimental evidence
Total: 4
| Function | Protein interaction | PMID:38834915 | 0.5 | protein | ||
| Function | Regulatory Impact | PMID:17273961 PMID:29474918 PMID:30973967 | 2 | TAF1 expression, methylation decrease, transcriptome alterations | ||
| Functional Alteration | Non-patient cells | PMID:35868859 | 0.5 | carrier iPSCs | ||
| Models | Non-human model organism | PMID:34250228 | 1 | brain cell types |
4 rows