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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 |
|---|---|---|---|---|---|
| C1292779 | Myelodysplastic Syndrome with Isolated del(5q) | ANXA5 | 308 | annexin A5 | P08758 |
| C1292779 | Myelodysplastic Syndrome with Isolated del(5q) | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C1292779 | Myelodysplastic Syndrome with Isolated del(5q) | CD14 | 929 | CD14 molecule | P08571 |
| C1292779 | Myelodysplastic Syndrome with Isolated del(5q) | CD74 | 972 | CD74 molecule | P04233 |
| C1301355 | Myelodysplastic-Myeloproliferative Diseases | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1301355 | Myelodysplastic-Myeloproliferative Diseases | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0026987 | Myelofibrosis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0026987 | Myelofibrosis | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0026987 | Myelofibrosis | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0026987 | Myelofibrosis | CALR | 811 | calreticulin | P27797 |
| C0026987 | Myelofibrosis | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0026987 | Myelofibrosis | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
| C0026987 | Myelofibrosis | STS | 412 | steroid sulfatase | P08842 |
| C0026987 | Myelofibrosis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0026987 | Myelofibrosis | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C0026987 | Myelofibrosis | SELP | 6403 | selectin P | P16109 |
| C0026987 | Myelofibrosis | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0026987 | Myelofibrosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0026987 | Myelofibrosis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0026987 | Myelofibrosis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0026987 | Myelofibrosis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0026987 | Myelofibrosis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0242006 | Myelofibrosis due to another disorder | CALR | 811 | calreticulin | P27797 |
| C0242006 | Myelofibrosis due to another disorder | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0023470 | Myeloid Leukemia | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
