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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 |
|---|---|---|---|---|---|
| C0022602 | Actinic keratosis | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0025521 | Inborn Errors of Metabolism | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0585442 | Osteosarcoma of bone | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0039075 | Syndactyly | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0278876 | Adult Medulloblastoma | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0238461 | Anaplastic thyroid carcinoma | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0238463 | Papillary thyroid carcinoma | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0302592 | Cervix carcinoma | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0041296 | Tuberculosis | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0268579 | Propionic acidemia | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C1335302 | Pancreatic Ductal Adenocarcinoma | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0007867 | Cervix Diseases | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0036572 | Seizures | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0280324 | Laryngeal Squamous Cell Carcinoma | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0021051 | Immunologic Deficiency Syndromes | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0684249 | Carcinoma of lung | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C4049005 | Cataract, total congenital with posterior sutural opacities in Heterozygotes | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0276496 | Familial Alzheimer Disease (FAD) | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C1565489 | Renal Insufficiency | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0553723 | Squamous cell carcinoma of skin | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0024523 | Malabsorption Syndrome | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0030312 | Pancytopenia | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0035335 | Retinoblastoma | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0948008 | Ischemic stroke | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0206708 | Cervical Intraepithelial Neoplasia | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
