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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 |
|---|---|---|---|---|---|
| C0026703 | Mucopolysaccharidoses | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0026703 | Mucopolysaccharidoses | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0026703 | Mucopolysaccharidoses | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0026703 | Mucopolysaccharidoses | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0026703 | Mucopolysaccharidoses | GNS | 2799 | glucosamine (N-acetyl)-6-sulfatase | P15586 |
| C0026703 | Mucopolysaccharidoses | GUSB | 2990 | glucuronidase beta | P08236 |
| C0026703 | Mucopolysaccharidoses | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0026703 | Mucopolysaccharidoses | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0026703 | Mucopolysaccharidoses | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0026703 | Mucopolysaccharidoses | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0026703 | Mucopolysaccharidoses | ARSB | 411 | arylsulfatase B | P15848 |
| C0026703 | Mucopolysaccharidoses | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0026703 | Mucopolysaccharidoses | OGA | 10724 | O-GlcNAcase | O60502 |
| C0026703 | Mucopolysaccharidoses | HYAL1 | 3373 | hyaluronidase 1 | Q12794 |
| C0026703 | Mucopolysaccharidoses | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0026703 | Mucopolysaccharidoses | SPAM1 | 6677 | sperm adhesion molecule 1 | P38567 |
| C0026703 | Mucopolysaccharidoses | HYAL2 | 8692 | hyaluronidase 2 | Q12891 |
| C0026703 | Mucopolysaccharidoses | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0026703 | Mucopolysaccharidoses | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C0026703 | Mucopolysaccharidoses | ARSH | 347527 | arylsulfatase family member H | Q5FYA8 |
| C0026703 | Mucopolysaccharidoses | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0023786 | Mucopolysaccharidosis I | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0023786 | Mucopolysaccharidosis I | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0023786 | Mucopolysaccharidosis I | ARSB | 411 | arylsulfatase B | P15848 |
| C0023786 | Mucopolysaccharidosis I | CAT | 847 | catalase | P04040 |
