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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 ▼ |
|---|---|---|---|---|---|
| C2711227 | Steatohepatitis | ART3 | 419 | ADP-ribosyltransferase 3 | Q13508 |
| C0004509 | Azoospermia | ART3 | 419 | ADP-ribosyltransferase 3 | Q13508 |
| C0027651 | Neoplasms | ART3 | 419 | ADP-ribosyltransferase 3 | Q13508 |
| C0025202 | melanoma | ART3 | 419 | ADP-ribosyltransferase 3 | Q13508 |
| C2875316 | Myotubular (centronuclear) myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0175709 | Centronuclear myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0007959 | Charcot-Marie-Tooth Disease | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0017661 | IGA Glomerulonephritis | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0015469 | Facial paralysis | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0752282 | Congenital Structural Myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0410203 | X-linked centronuclear myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1832399 | Charcot-Marie-Tooth disease, Type 4B1 | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1834558 | Myopathy, Centronuclear, Autosomal Dominant | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C4082197 | Charcot-Marie-Tooth disease type 4 | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0026848 | Myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0546264 | Congenital Fiber Type Disproportion | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0031117 | Peripheral Neuropathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0018920 | Hemangioma, Cavernous | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0011981 | Diaphragmatic Eventration | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0678222 | Breast Carcinoma | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0036439 | Scoliosis, unspecified | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C4721453 | Peripheral Nervous System Diseases | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0028860 | Oculocerebrorenal Syndrome | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0010417 | Cryptorchidism | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1858278 | Charcot-Marie-Tooth disease, Type 4B2 | MTM1 | 4534 | myotubularin 1 | Q13496 |
