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: 6609
Gene Symbol: SMPD1
SMPD1 		sphingomyelin phosphodiesterase 1 0.499 0.885 3.9E-10
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		disease 0.800 strong 1.000 5 0 1991 2020
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		sphingomyelin phosphodiesterase 1 0.499 0.885 3.9E-10
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		disease 0.800 strong 1.000 3 0 1991 2019