Source: ORPHANET

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: C0338462
Disease: Semantic Dementia
Semantic Dementia
disease 0.600 None 1.000 1 0 2000 2000
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.469 0.846 0.97
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
disease 0.300 None 1.000 1 0 2006 2006
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.469 0.846 0.97
Primary Progressive Nonfluent Aphasia
disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.469 0.846 0.97
Behavioral variant of frontotemporal dementia
disease 0.300 None 1.000 1 0 2000 2000