HPE5_ZIC2
- Gene
- ZIC2
- Disease
- HPE5
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 11.5
- Publications Reviewed
- 3
- Publication Span
- 8 years
- Last Updated
- 03/02/2026
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Genetic evidence
Total: 7
| Singular Evidence | Probands | PMID:11285244 | 6 | 15 + de novo | probands:15 |
| Collective Evidence | Computational | PMID:19177455 | 1 |
2 rows
Experimental evidence
Total: 4.5
| Function | Biochemical function | PMID:15590697 | 0.5 | transc |
| Function | Protein interaction | PMID:15590697 | 0.5 | |
| Function | Regulatory impact | PMID:15590697 | 0.5 | C term |
| Functional Alteration | Patient cells | PMID:15590697 | 1 | patient mutations |
| Models | Non-human model organism | PMID:15590697 | 2 | mouse | mouse, from patient mutations, evaluated C terminal, protein, transcription, etc |
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.