Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0409336
Disease: Flexion contracture-shoulder
Flexion contracture-shoulder 		disease 0.100 None 1.000 1 1 2014 2014