Disease_ID | Disorder | Category | ENZYME LEVEL IN PATIENT (nm/h/mg protein) | Mannose-6-Phosphate | Gene | Location |
---|---|---|---|---|---|---|
D_1047 | Fabry disease (alpha-galactosidase A) | Gangliosidosis | nr | yes | GLA | cat enz |
D_1048 | Schindler disease (alpha-galactosidase B) | Gangliosidosis | nr | yes | NAGA | cat enz |
D_1049 | GM1 gangliosidoses - GM1 | Gangliosidosis | 0.0-15.3 | na | GM2A | cat enz |
D_1050 | Sandhoff disease | Gangliosidosis | 33.0-382.0 | yes | HEXB | cat enz |
D_1051 | Tay–Sachs (disease AB variant) | Gangliosidosis | 0.0-23.4 | yes | HEXA | cat enz |
D_1052 | Combined saposin deficiency | Gangliosidosis | nr | yes | PSAP | accessory protein |
D_1053 | Gaucher disease type I | Gangliosidosis | 0.0-4.6 | yes | GBA | cat enz |
D_1054 | Gaucher disease type II | Gangliosidosis | nr | yes | GBA | cat enz |
D_1055 | Gaucher disease type III | Gangliosidosis | 0.0-4.0 | yes | GBA | cat enz |
D_1056 | Gaucher disease type IIIC | Gangliosidosis | nr | yes | GBA | cat enz |
D_1058 | Multiple sulfatase deficiency | Gangliosidosis | nr | na | SUMF1 | cat enz |
D_1059 | Farber disease | Gangliosidosis | nr | yes | ASAH1 | cat enz |
D_1060 | Krabbe disease | Gangliosidosis | 0.0-5.50 | yes | GALC | cat enz |