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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name ▲ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0026705 | Mucopolysaccharidosis II | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0026705 | Mucopolysaccharidosis II | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0026705 | Mucopolysaccharidosis II | CANX | 821 | calnexin | P27824 |
| C0026705 | Mucopolysaccharidosis II | CD38 | 952 | CD38 molecule | P28907 |
| C0026705 | Mucopolysaccharidosis II | ARSH | 347527 | arylsulfatase family member H | Q5FYA8 |
| C0026705 | Mucopolysaccharidosis II | SLC35G1 | 159371 | solute carrier family 35 member G1 | Q2M3R5 |
| C0026705 | Mucopolysaccharidosis II | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0026706 | Mucopolysaccharidosis III | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0026706 | Mucopolysaccharidosis III | GNS | 2799 | glucosamine (N-acetyl)-6-sulfatase | P15586 |
| C0026706 | Mucopolysaccharidosis III | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0026706 | Mucopolysaccharidosis III | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0026706 | Mucopolysaccharidosis III | ARSB | 411 | arylsulfatase B | P15848 |
| C0026706 | Mucopolysaccharidosis III | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0026706 | Mucopolysaccharidosis III | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C0026707 | Mucopolysaccharidosis IV | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0026707 | Mucopolysaccharidosis IV | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0026707 | Mucopolysaccharidosis IV | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0026707 | Mucopolysaccharidosis IV | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0026707 | Mucopolysaccharidosis IV | ARSB | 411 | arylsulfatase B | P15848 |
| C0026707 | Mucopolysaccharidosis IV | HYAL1 | 3373 | hyaluronidase 1 | Q12794 |
| C0026707 | Mucopolysaccharidosis IV | SPAM1 | 6677 | sperm adhesion molecule 1 | P38567 |
| C0026707 | Mucopolysaccharidosis IV | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0026707 | Mucopolysaccharidosis IV | ACAN | 176 | aggrecan | P16112 |
| C0086647 | Mucopolysaccharidosis Type IIIA | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0086647 | Mucopolysaccharidosis Type IIIA | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
