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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 |
|---|---|---|---|---|---|
| C0026848 | Myopathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C1858278 | Charcot-Marie-Tooth disease, Type 4B2 | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0024623 | Malignant neoplasm of stomach | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0031117 | Peripheral Neuropathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0017601 | Glaucoma | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0036439 | Scoliosis, unspecified | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0009081 | Congenital clubfoot | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0524851 | Neurodegenerative Disorders | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0015469 | Facial paralysis | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0023264 | Leigh Disease | GYG2 | 8908 | glycogenin 2 | O15488 |
| C0017919 | Glycogen Storage Disease | GYG2 | 8908 | glycogenin 2 | O15488 |
| C0007103 | Malignant neoplasm of endometrium | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0006826 | Malignant Neoplasms | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0162871 | Aortic Aneurysm, Abdominal | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0039483 | Giant Cell Arteritis | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0024814 | Marinesco-Sjogren syndrome | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0242379 | Malignant neoplasm of lung | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C1306459 | Primary malignant neoplasm | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C4520983 | Congenital atresia of extrahepatic bile duct | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0279626 | Squamous cell carcinoma of esophagus | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0027651 | Neoplasms | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0001430 | Adenoma | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0685938 | Malignant neoplasm of gastrointestinal tract | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0242584 | Autoimmune thrombocytopenia | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0024141 | Lupus Erythematosus, Systemic | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
