EIEE1_ARX
- Gene
- ARX
- Disease
- EIEE1
- Inheritance
- XR
- Classification
- Definitive
- Total Score
- 16.5
- Publications Reviewed
- 7
- Publication Span
- 17.66 years
- Last Updated
- 08/18/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Genetic evidence
Total: 11.5
| Singular Evidence | Probands | PMID:21204215 | 6 | 98 probands |
| Singular Evidence | Probands | PMID:9307258 | 3 | 2 families |
| Singular Evidence | Probands | PMID:12874418 | 12 families | |
| Collective Evidence | Segregation | PMID:9307258 | 1.5 | Markers DXS336, DXS333, DXS389, and DMD43 are completely linked with the disease in both families, resulting in a maximal LOD score of 2.357 for markers DXS989 and DMD49 at recombination fraction 0.0 |
| Collective Evidence | Allele | PMID:11889467 | 1 | length affects severity/phenotype |
5 rows
Experimental evidence
Total: 5
| Functional Alteration | Patient cells | PMID:26029707 | 1 | 10 patients |
| Functional Alteration | Non-patient cells | PMID:12874418 | 0.5 | 200 |
| Models | Non-human model organism | PMID:19587282 PMID:11889467 | 2 | mouse, zebrafish |
| Rescue | Rescue in cell culture | PMID:17460091 | 0.5 | migrating rescued in vitro |
| Function | Biochemical function | PMID:11889467 | 0.5 | transciptional repression |
| Function | Regulatory impact | PMID:12874418 PMID:11889467 | 0.5 | on cell surface |
6 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.