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: 10558
Gene Symbol: SPTLC1
SPTLC1 		serine palmitoyltransferase long chain base subunit 1 0.650 0.538 4.2E-11
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.310 strong 1.000 1 0 2004 2018