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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 |
|---|---|---|---|---|---|
| C0029443 | Osteomyelitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0029454 | Osteopetrosis | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0029454 | Osteopetrosis | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0029454 | Osteopetrosis | ARSA | 410 | arylsulfatase A | P15289 |
| C0029454 | Osteopetrosis | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0029454 | Osteopetrosis | CLC | 1178 | Charcot-Leyden crystal galectin | Q05315 |
| C0029454 | Osteopetrosis | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0029454 | Osteopetrosis | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C1956089 | Osteophyte | KL | 9365 | klotho | Q9UEF7 |
| C1956089 | Osteophyte | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C1956089 | Osteophyte | CD14 | 929 | CD14 molecule | P08571 |
| C1956089 | Osteophyte | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1956089 | Osteophyte | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C1956089 | Osteophyte | ACLY | 47 | ATP citrate lyase | P53396 |
| C0029455 | Osteopoikilosis (disorder) | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0029456 | Osteoporosis | XXYLT1 | 152002 | xyloside xylosyltransferase 1 | Q8NBI6 |
| C0029456 | Osteoporosis | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0029456 | Osteoporosis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0029456 | Osteoporosis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0029456 | Osteoporosis | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0029456 | Osteoporosis | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0029456 | Osteoporosis | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0029456 | Osteoporosis | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0029456 | Osteoporosis | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C0029456 | Osteoporosis | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
