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: 5213
Gene Symbol: PFKM
PFKM 		phosphofructokinase, muscle 0.666 0.500 3.8E-18
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII 		disease 0.940 None 1.000 6 0 1990 2016
Entrez Id: 5213
Gene Symbol: PFKM
PFKM 		phosphofructokinase, muscle 0.666 0.500 3.8E-18
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group 0.400 limited 1.000 0 0 1994 1997