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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 |
|---|---|---|---|---|---|
| C0013336 | Dwarfism | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0013336 | Dwarfism | CSGALNACT1 | 55790 | chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Q8TDX6 |
| C0013336 | Dwarfism | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0013336 | Dwarfism | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C0013336 | Dwarfism | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0013336 | Dwarfism | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0013336 | Dwarfism | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0013336 | Dwarfism | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0013336 | Dwarfism | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0013336 | Dwarfism | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0013336 | Dwarfism | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0013336 | Dwarfism | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0013336 | Dwarfism | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0013336 | Dwarfism | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0013336 | Dwarfism | GLA | 2717 | galactosidase alpha | P06280 |
| C0013336 | Dwarfism | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0013336 | Dwarfism | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0013336 | Dwarfism | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0013336 | Dwarfism | GUSB | 2990 | glucuronidase beta | P08236 |
| C0013336 | Dwarfism | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0013336 | Dwarfism | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0013336 | Dwarfism | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0013336 | Dwarfism | ARSB | 411 | arylsulfatase B | P15848 |
| C0013336 | Dwarfism | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0013336 | Dwarfism | NEU1 | 4758 | neuraminidase 1 | Q99519 |
