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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 |
|---|---|---|---|---|---|
| C0005967 | Bone neoplasms | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0029445 | Bone necrosis | KL | 9365 | klotho | Q9UEF7 |
| C0029445 | Bone necrosis | CYP2C8 | 1558 | cytochrome P450 family 2 subfamily C member 8 | P10632 |
| C0151773 | Bone marrow depression | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0151773 | Bone marrow depression | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0151773 | Bone marrow depression | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C1332591 | Bone Surface (Peripheral) Osteosarcoma | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C1704327 | Bone Sarcoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1704327 | Bone Sarcoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1704327 | Bone Sarcoma | CD248 | 57124 | CD248 molecule | Q9HCU0 |
| C0005974 | Bone Resorption | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0282609 | Bone Marrow Neoplasms | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0005956 | Bone Marrow Diseases | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0005956 | Bone Marrow Diseases | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0005956 | Bone Marrow Diseases | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0005956 | Bone Marrow Diseases | TMTC1 | 83857 | transmembrane O-mannosyltransferase targeting cadherins 1 | Q8IUR5 |
| C0005956 | Bone Marrow Diseases | IL18RAP | 8807 | interleukin 18 receptor accessory protein | O95256 |
| C0005956 | Bone Marrow Diseases | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0005956 | Bone Marrow Diseases | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0005956 | Bone Marrow Diseases | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0005940 | Bone Diseases | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0005940 | Bone Diseases | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0005940 | Bone Diseases | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0005940 | Bone Diseases | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0005940 | Bone Diseases | IDUA | 3425 | alpha-L-iduronidase | P35475 |
