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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 ▼ |
|---|---|---|---|---|---|
| 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 |
| C0006826 | Malignant Neoplasms | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0019163 | Hepatitis B | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0349639 | Juvenile Myelomonocytic Leukemia | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0036202 | Sarcoidosis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C1306459 | Primary malignant neoplasm | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0004096 | Asthma | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0026769 | Multiple Sclerosis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0520679 | Sleep Apnea, Obstructive | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0027022 | Myeloproliferative disease | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C1306759 | Eosinophilic disorder | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
