| Gene Symbol | ent-gene-0c093647 |
| Causality strength | Absolutely proven - PSEN2 mutations are fully penetrant causes of familial AD |
| Population frequency | Very rare (<0.001% of population) |
| Age of onset | Later than PSEN1 (~65 years average), consistent with "late-onset" FAD |
| Segregation | Perfect Mendelian inheritance in affected families |
| Unique feature | Some PSEN2 mutations show incomplete penetrance or variable expressivity |
| KG Connections | 13 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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