A currative database for lysosomal storage disorder
| Enzyme/Protein | Disease | Gene location | Gene | OMIM | UniProt | Cystinosin (cystin transport) | Cystinosis | 17p13.2 | CTNS | 606272 | O60931 |
| Sialin (sialic acid transport) | Salla disease | 6q13 | SLC17A5 | 604322 | Q9NRA2 |
| Niemann-Pick C1 protein (NPC1) | Niemann Pick type C | 18q11.2 | NPC1 | 607623 | O15118 |
| Lysosome-associated membrane protein 2 (LAMP-2) | Danon | Xq24 | LAMP2 | 309060 | P13473 |
| Phosphotransferase γ-subunit | Mucolipidosis III (I-cell disease) | 16p13.3 | GNPTG | 607838 | Q9UJJ9 |
| Mucolipin-1(cation channel) | Mucolipidosis IV | 19p13.2 | MCOLN1 | 605248 | Q9GZU1 |
| Lysosomal-trafficking regulator (LYST) | Chediak-Higashi syndrome | 1q42.3 | LYST | 606897 | Q99698 |
| AP3 β-subunit | Hermansky Pudlak 2 | 5q14.1 | AP3B1 | 603401 | O00203 |
| Hyaluronidase | Natowicz syndrome | 3p21.31 | HYAL1 | 607071 | Q12794 |