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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 |
|---|---|---|---|---|---|
| C0034194 | Pyloric Stenosis | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0011334 | Dental caries | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0011991 | Diarrhea | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0442874 | Neuropathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0014121 | Bacterial Endocarditis | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0027868 | Neuromuscular Diseases | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1541923 | Infective endocarditis | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0270960 | Congenital myopathy (disorder) | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0008372 | Intrahepatic Cholestasis | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0007193 | Cardiomyopathy, Dilated | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0005745 | Blepharoptosis | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0524620 | Metabolic Syndrome X | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C4551952 | Myopathy, Centronuclear, 1 | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0410207 | Tubular Aggregate Myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0699790 | Colon Carcinoma | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0027651 | Neoplasms | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0015934 | Fetal Growth Retardation | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0007102 | Malignant tumor of colon | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C3645536 | Autosomal Recessive Centronuclear Myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0020255 | Hydrocephalus | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0004245 | Atrioventricular Block | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0006826 | Malignant Neoplasms | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C2931689 | Dystrophia myotonica 2 | MTMR1 | 8776 | myotubularin related protein 1 | Q13613 |
| C0410203 | X-linked centronuclear myopathy | MTMR1 | 8776 | myotubularin related protein 1 | Q13613 |
