Enzyme/Protein,Disease,Gene location,Gene,OMIM,UniProt
α-Galactosidase A,Fabry,Xq22.1,GLA,300644,P06280
Acid ceramidase,Farber lipogranulomatosis,8q22,ASAH1,228000,Q13510
β-Galactosidase,GM1 gangliosidosis,3p21.33,GLB1,230500,P16278
β-Hexosaminidase β-subunit,GM2-gangliosidosis (Sandhoff),5q13.3,HEXB,268800,P07686
Glucocerebrosidase,Gaucher disease,1q22,GBA,230800,P04062
β-Galactosylceramidase,Globoid cell leukodystrophy (Krabbe disease),14q.31.3,GALC,245200,P54803
Arylsulfatase A,Metachromatic luekodystrophy,2q13.33,ARSA,250100,P15289
Sphingomyelin phosphodiesterase,Niemann Pick type A and B,11p15.4,SMPD1,257200,P17405