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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 |
|---|---|---|---|---|---|
| C0040034 | Thrombocytopenia | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0006142 | Malignant neoplasm of breast | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0029463 | Osteosarcoma | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0009402 | Colorectal Carcinoma | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0699790 | Colon Carcinoma | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0025149 | Medulloblastoma | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0029124 | Optic Atrophy | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0032371 | Poliomyelitis | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0018802 | Congestive heart failure | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0027651 | Neoplasms | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0006826 | Malignant Neoplasms | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0020757 | Ichthyoses | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0025958 | Microcephaly | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0033860 | Psoriasis | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0028754 | Obesity | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0013336 | Dwarfism | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0005741 | Blepharitis | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0037274 | Dermatologic disorders | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C1306459 | Primary malignant neoplasm | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0025202 | melanoma | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C0334634 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C1261473 | Sarcoma | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C1306459 | Primary malignant neoplasm | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
