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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 |
|---|---|---|---|---|---|
| C0005940 | Bone Diseases | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0005940 | Bone Diseases | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0005940 | Bone Diseases | GLO1 | 2739 | glyoxalase I | Q04760 |
| C0005940 | Bone Diseases | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0005940 | Bone Diseases | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C0005940 | Bone Diseases | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0005940 | Bone Diseases | KLRB1 | 3820 | killer cell lectin like receptor B1 | Q12918 |
| C0005940 | Bone Diseases | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0005940 | Bone Diseases | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0005940 | Bone Diseases | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0005940 | Bone Diseases | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| 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 |
| C0005967 | Bone neoplasms | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0005967 | Bone neoplasms | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0005967 | Bone neoplasms | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0005967 | Bone neoplasms | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0005967 | Bone neoplasms | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C0005967 | Bone neoplasms | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
