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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 |
|---|---|---|---|---|---|
| C1832399 | Charcot-Marie-Tooth disease, Type 4B1 | MTMR1 | 8776 | myotubularin related protein 1 | Q13613 |
| C3645536 | Autosomal Recessive Centronuclear Myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0026848 | Myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0175709 | Centronuclear myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0024591 | Malignant hyperpyrexia due to anesthesia | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0027651 | Neoplasms | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0020224 | Polyhydramnios | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0410207 | Tubular Aggregate Myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0010417 | Cryptorchidism | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0005745 | Blepharoptosis | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0162292 | External Ophthalmoplegia | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0004045 | Asphyxia Neonatorum | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0028754 | Obesity | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0752282 | Congenital Structural Myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0018920 | Hemangioma, Cavernous | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C1834558 | Myopathy, Centronuclear, Autosomal Dominant | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C4551952 | Myopathy, Centronuclear, 1 | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0878544 | Cardiomyopathies | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C4721610 | Carcinoma, Ovarian Epithelial | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0546264 | Congenital Fiber Type Disproportion | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0520947 | Clumsiness - motor delay | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0015469 | Facial paralysis | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0345904 | Malignant neoplasm of liver | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0410203 | X-linked centronuclear myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
