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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 |
|---|---|---|---|---|---|
| C0018784 | Sensorineural Hearing Loss (disorder) | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0018784 | Sensorineural Hearing Loss (disorder) | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0018780 | Hearing Loss, High-Frequency | TECTA | 7007 | tectorin alpha | O75443 |
| C0018780 | Hearing Loss, High-Frequency | CAT | 847 | catalase | P04040 |
| C0018780 | Hearing Loss, High-Frequency | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0018776 | Hearing Loss, Central | CAT | 847 | catalase | P04040 |
| C0018776 | Hearing Loss, Central | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0018671 | Head and Neck Neoplasms | HPSE | 10855 | heparanase | Q9Y251 |
| C0018671 | Head and Neck Neoplasms | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0018671 | Head and Neck Neoplasms | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0018671 | Head and Neck Neoplasms | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0018671 | Head and Neck Neoplasms | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0018671 | Head and Neck Neoplasms | ICAM5 | 7087 | intercellular adhesion molecule 5 | Q9UMF0 |
| C0018671 | Head and Neck Neoplasms | MINPP1 | 9562 | multiple inositol-polyphosphate phosphatase 1 | Q9UNW1 |
| C0018671 | Head and Neck Neoplasms | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0018671 | Head and Neck Neoplasms | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0018671 | Head and Neck Neoplasms | ADH7 | 131 | alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide | P40394 |
| C0018671 | Head and Neck Neoplasms | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0018671 | Head and Neck Neoplasms | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0018671 | Head and Neck Neoplasms | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0018671 | Head and Neck Neoplasms | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0018621 | Hay fever | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0018621 | Hay fever | LYZ | 4069 | lysozyme | P61626 |
| C0018621 | Hay fever | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C0018621 | Hay fever | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
