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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 ▼ |
|---|---|---|---|---|---|
| C0022661 | Kidney Failure, Chronic | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C4082304 | Oligodontia | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0029124 | Optic Atrophy | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C1854466 | Temtamy preaxial brachydactyly syndrome | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0279987 | Childhood Malignant Peripheral Nerve Sheath Tumor | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C1621958 | Glioblastoma Multiforme | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0013336 | Dwarfism | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0006826 | Malignant Neoplasms | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0017636 | Glioblastoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C2239176 | Liver carcinoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C4721453 | Peripheral Nervous System Diseases | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0278878 | Adult Glioblastoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C1261473 | Sarcoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0009402 | Colorectal Carcinoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0039075 | Syndactyly | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0027651 | Neoplasms | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0020608 | Hypodontia | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0678222 | Breast Carcinoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C1306459 | Primary malignant neoplasm | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0278622 | Adult Malignant Peripheral Nerve Sheath Tumor | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0006142 | Malignant neoplasm of breast | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C3714524 | Fibromyxosarcoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0452138 | Sensorineural hearing loss, bilateral | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
