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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 |
|---|---|---|---|---|---|
| C0026857 | Musculoskeletal Diseases | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0026857 | Musculoskeletal Diseases | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0026857 | Musculoskeletal Diseases | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0231528 | Myalgia | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0231528 | Myalgia | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0231528 | Myalgia | FKTN | 2218 | fukutin | O75072 |
| C0231528 | Myalgia | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0231528 | Myalgia | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0231528 | Myalgia | GLA | 2717 | galactosidase alpha | P06280 |
| C0231528 | Myalgia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0231528 | Myalgia | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0231528 | Myalgia | ENO3 | 2027 | enolase 3 | P13929 |
| C0231528 | Myalgia | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0231528 | Myalgia | LALBA | 3906 | lactalbumin alpha | P00709 |
| C0231528 | Myalgia | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0231528 | Myalgia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0231528 | Myalgia | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0231528 | Myalgia | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0231528 | Myalgia | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0231528 | Myalgia | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0231528 | Myalgia | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0231528 | Myalgia | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0231528 | Myalgia | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0231528 | Myalgia | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0231528 | Myalgia | LPIN1 | 23175 | lipin 1 | Q14693 |
