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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 |
|---|---|---|---|---|---|
| C1292778 | Chronic myeloproliferative disorder | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1292778 | Chronic myeloproliferative disorder | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1292778 | Chronic myeloproliferative disorder | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| 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 |
| C1298681 | Oxalosis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1298681 | Oxalosis | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C1299237 | Endocervical Carcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1299240 | Carcinoma of supraglottis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1300257 | Thanatophoric dysplasia, type 2 | LMAN1 | 3998 | lectin, mannose binding 1 | P49257 |
| 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 |
| C1301937 | Talipes | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C1301937 | Talipes | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1301937 | Talipes | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C1301937 | Talipes | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1301937 | Talipes | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C1301937 | Talipes | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C1301937 | Talipes | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1302547 | Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C1302547 | Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C1304508 | Spindle cell hemangioma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1304508 | Spindle cell hemangioma | ANXA5 | 308 | annexin A5 | P08758 |
