Contents

PSEN1 Presenilin 1 AD Causal Chain

🔬 Protein Info

Gene Symbol	ent-gene-5b8aa21c
Causality strength	Absolutely proven - PSEN1 mutations are fully penetrant causes of autosomal dominant AD
Population frequency	Very rare (<0.001% of population)
Age of onset	Highly predictable (~45 years average)
Segregation	Perfect Mendelian inheritance in affected families
KG Connections	15 knowledge graph edges
Databases	GeneCards UniProt NCBI Gene HPA STRING

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