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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 |
|---|---|---|---|---|---|
| C0005411 | Biliary Atresia | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0242994 | Hantavirus Infections | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0272286 | Thrombocytopenia due to platelet alloimmunization | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0678222 | Breast Carcinoma | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0699885 | Carcinoma of bladder | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0007131 | Non-Small Cell Lung Carcinoma | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0007097 | Carcinoma | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0023264 | Leigh Disease | GYG2 | 8908 | glycogenin 2 | O15488 |
| C0017919 | Glycogen Storage Disease | GYG2 | 8908 | glycogenin 2 | O15488 |
| C0011195 | Dejerine-Sottas Disease (disorder) | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C1832399 | Charcot-Marie-Tooth disease, Type 4B1 | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C1408182 | Hereditary motor and sensory neuropathy, types I-IV | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0442874 | Neuropathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C2875300 | Peroneal muscular atrophy (axonal type) (hypertrophic type) | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0007959 | Charcot-Marie-Tooth Disease | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C4082197 | Charcot-Marie-Tooth disease type 4 | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0175709 | Centronuclear myopathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C1408174 | Hypertrophic neuropathy of infancy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0205713 | Roussy-Levy Syndrome (disorder) | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0027888 | Hereditary Motor and Sensory Neuropathies | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0151313 | Sensory neuropathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C4721453 | Peripheral Nervous System Diseases | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0699791 | Stomach Carcinoma | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0270922 | Peripheral demyelinating neuropathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0027651 | Neoplasms | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
