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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 |
|---|---|---|---|---|---|
| C1847360 | PARKINSON DISEASE 10 | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1868598 | PARIETAL FORAMINA | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C1868598 | PARIETAL FORAMINA | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C1868598 | PARIETAL FORAMINA | QTRT1 | 81890 | queuine tRNA-ribosyltransferase catalytic subunit 1 | Q9BXR0 |
| C1868598 | PARIETAL FORAMINA | CAT | 847 | catalase | P04040 |
| C3279992 | PARAGANGLIOMAS 5 | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C1861848 | PARAGANGLIOMAS 4 | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C1861848 | PARAGANGLIOMAS 4 | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C1861848 | PARAGANGLIOMAS 4 | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C1854336 | PARAGANGLIOMAS 3 | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C1866552 | PARAGANGLIOMAS 2 (disorder) | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1847319 | PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C1847319 | PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C1847319 | PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C1847351 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | CBR4 | 84869 | carbonyl reductase 4 | Q8N4T8 |
| C0030105 | Ozena (disorder) | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C1510502 | Oxyphilic Adenoma | HYAL4 | 23553 | hyaluronidase 4 | Q2M3T9 |
| C1510502 | Oxyphilic Adenoma | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C1510502 | Oxyphilic Adenoma | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C1510502 | Oxyphilic Adenoma | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C1510502 | Oxyphilic Adenoma | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C1510502 | Oxyphilic Adenoma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1510502 | Oxyphilic Adenoma | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C1510502 | Oxyphilic Adenoma | PRSS8 | 5652 | serine protease 8 | Q16651 |
| C1510502 | Oxyphilic Adenoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
