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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 |
|---|---|---|---|---|---|
| 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 |
| C1832370 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0006142 | Malignant neoplasm of breast | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0162292 | External Ophthalmoplegia | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0035220 | Respiratory Distress Syndrome, Newborn | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0427055 | Facial Paresis | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0036572 | Seizures | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1456418 | Absence of muscle | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0011847 | Diabetes | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0524851 | Neurodegenerative Disorders | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0027126 | Myotonic Dystrophy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0034494 | Rabies (disorder) | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0011849 | Diabetes Mellitus | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1306459 | Primary malignant neoplasm | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0020224 | Polyhydramnios | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0022661 | Kidney Failure, Chronic | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0751401 | Ophthalmoparesis | MTM1 | 4534 | myotubularin 1 | Q13496 |
