Source: GENOMICS_ENGLAND

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: 10577
Gene Symbol: NPC2
NPC2 		NPC intracellular cholesterol transporter 2 0.612 0.769 1.8E-03
CUI: C1843366
Disease: NIEMANN-PICK DISEASE, TYPE C2
NIEMANN-PICK DISEASE, TYPE C2 		disease 0.780 None 1.000 4 0 2000 2018
Entrez Id: 10577
Gene Symbol: NPC2
NPC2 		NPC intracellular cholesterol transporter 2 0.612 0.769 1.8E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.400 None 1.000 1 0 2001 2001