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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 | 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 |
| C0013336 | Dwarfism | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C0013336 | Dwarfism | CTSA | 5476 | cathepsin A | P10619 |
| C0013336 | Dwarfism | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0013336 | Dwarfism | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0013336 | Dwarfism | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0013336 | Dwarfism | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0013336 | Dwarfism | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0013336 | Dwarfism | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0013336 | Dwarfism | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C0013336 | Dwarfism | ALDOA | 226 | aldolase, fructose-bisphosphate A | P04075 |
| C0013336 | Dwarfism | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0013336 | Dwarfism | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0013336 | Dwarfism | HYAL1 | 3373 | hyaluronidase 1 | Q12794 |
| C0013336 | Dwarfism | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
