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 |
---|---|---|---|---|---|
C0086647 | Mucopolysaccharidosis Type IIIA | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
C0086647 | Mucopolysaccharidosis Type IIIA | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
C0086647 | Mucopolysaccharidosis Type IIIA | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
C0086647 | Mucopolysaccharidosis Type IIIA | GNS | 2799 | glucosamine (N-acetyl)-6-sulfatase | P15586 |
C0086647 | Mucopolysaccharidosis Type IIIA | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
C0086647 | Mucopolysaccharidosis Type IIIA | IDS | 3423 | iduronate 2-sulfatase | P22304 |
C0086647 | Mucopolysaccharidosis Type IIIA | IDUA | 3425 | alpha-L-iduronidase | P35475 |
C0086647 | Mucopolysaccharidosis Type IIIA | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
C0086647 | Mucopolysaccharidosis Type IIIA | ARSB | 411 | arylsulfatase B | P15848 |
C0086647 | Mucopolysaccharidosis Type IIIA | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
C0086647 | Mucopolysaccharidosis Type IIIA | OGA | 10724 | O-GlcNAcase | O60502 |
C0086647 | Mucopolysaccharidosis Type IIIA | CHAT | 1103 | choline O-acetyltransferase | P28329 |
C0026708 | Mucopolysaccharidosis V | IDUA | 3425 | alpha-L-iduronidase | P35475 |
C0026709 | Mucopolysaccharidosis VI | GUSB | 2990 | glucuronidase beta | P08236 |
C0026709 | Mucopolysaccharidosis VI | IDS | 3423 | iduronate 2-sulfatase | P22304 |
C0026709 | Mucopolysaccharidosis VI | ARSA | 410 | arylsulfatase A | P15289 |
C0026709 | Mucopolysaccharidosis VI | ARSB | 411 | arylsulfatase B | P15848 |
C0026709 | Mucopolysaccharidosis VI | CD1D | 912 | CD1d molecule | P15813 |
C0085132 | Mucopolysaccharidosis VII | GUSB | 2990 | glucuronidase beta | P08236 |
C0085132 | Mucopolysaccharidosis VII | IDUA | 3425 | alpha-L-iduronidase | P35475 |
C0086652 | Mucopolysaccharidosis type IVB | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
C0086652 | Mucopolysaccharidosis type IVB | GLB1 | 2720 | galactosidase beta 1 | P16278 |
C0086652 | Mucopolysaccharidosis type IVB | IDUA | 3425 | alpha-L-iduronidase | P35475 |
C0086651 | Mucopolysaccharidosis, MPS-IV-A | ST3GAL1 | 6482 | ST3 beta-galactoside alpha-2,3-sialyltransferase 1 | Q11201 |
C0086651 | Mucopolysaccharidosis, MPS-IV-A | ST3GAL2 | 6483 | ST3 beta-galactoside alpha-2,3-sialyltransferase 2 | Q16842 |
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Last updated: August 19, 2024