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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 ▼ |
|---|---|---|---|---|---|
| C1282975 | von Willebrand Disease, Type 2N | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0018784 | Sensorineural Hearing Loss (disorder) | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0302280 | Adrenogenital Syndrome | OTOA | 146183 | otoancorin | Q7RTW8 |
| C1384666 | hearing impairment | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0452138 | Sensorineural hearing loss, bilateral | OTOA | 146183 | otoancorin | Q7RTW8 |
| C3150275 | COMPLEMENT COMPONENT 2 DEFICIENCY | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0001627 | Congenital adrenal hyperplasia | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0221757 | alpha 1-Antitrypsin Deficiency | OTOA | 146183 | otoancorin | Q7RTW8 |
| C1857276 | Trichohepatoenteric Syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0011847 | Diabetes | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0006142 | Malignant neoplasm of breast | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0029456 | Osteoporosis | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0432242 | Desbuquois syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0020490 | Hyperopia | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C1384514 | Conn Syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C1837657 | Spondyloepiphyseal dysplasia, Omani type | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0027651 | Neoplasms | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0342471 | 3 beta-Hydroxysteroid dehydrogenase deficiency | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0038015 | Spondyloepiphyseal Dysplasia | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0020538 | Hypertensive disease | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0003850 | Arteriosclerosis | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0016202 | Flatfoot | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0476089 | Endometrial Carcinoma | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0014175 | Endometriosis | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0678222 | Breast Carcinoma | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
