NIID_NOTCH2NLC
- Gene
- NOTCH2NLC
- Disease
- NIID
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 18
- Publications Reviewed
- 8
- Publication Span
- 5.08 years
- Last Updated
- 08/14/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Genetic evidence
Total: 12
| Singular Evidence | Probands | PMID:37090934 | 6 | |
| Collective Evidence | Segregation | PMID:31178126 | 1.5 | |
| Statistics | Case-control data | PMID:36570826 PMID:36086903 PMID:35857137 PMID:34675106 | 6 |
3 rows
Experimental evidence
Total: 6
| Function | Biochemical function | PMID:31332380 | 0.5 | |
| Function | Protein interaction | PMID:31332380 | 0.5 | |
| Function | Regulatory impact | PMID:31332380 | 1 | Expression, epigenetic |
| Functional Alteration | Patient cells | PMID:39055960 | 1 | |
| Functional Alteration | Non-patient cells | PMID:39055960 | 0.5 | |
| Models | Non-human model organism | PMID:39055960 | 4 | fly and mouse |
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.