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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 |
|---|---|---|---|---|---|
| C0027066 | Myoclonus | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0027404 | Narcolepsy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0376532 | Epilepsy, Rolandic | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C1306459 | Primary malignant neoplasm | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0006826 | Malignant Neoplasms | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C3665347 | Visual Impairment | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0035372 | Rett Syndrome | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0017919 | Glycogen Storage Disease | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0349506 | Photosensitivity of skin | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0011265 | Presenile dementia | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751122 | Infantile Severe Myoclonic Epilepsy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751383 | Juvenile Neuronal Ceroid Lipofuscinosis | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0025202 | melanoma | EDEM1 | 9695 | ER degradation enhancing alpha-mannosidase like protein 1 | Q92611 |
| C1269683 | Major Depressive Disorder | EDEM1 | 9695 | ER degradation enhancing alpha-mannosidase like protein 1 | Q92611 |
| C0019196 | Hepatitis C | EDEM1 | 9695 | ER degradation enhancing alpha-mannosidase like protein 1 | Q92611 |
| C0041696 | Unipolar Depression | EDEM1 | 9695 | ER degradation enhancing alpha-mannosidase like protein 1 | Q92611 |
| C0002395 | Alzheimer's Disease | EDEM2 | 55741 | ER degradation enhancing alpha-mannosidase like protein 2 | Q9BV94 |
| C0042133 | Uterine Fibroids | EDEM2 | 55741 | ER degradation enhancing alpha-mannosidase like protein 2 | Q9BV94 |
| C0023267 | Fibroid Tumor | EDEM2 | 55741 | ER degradation enhancing alpha-mannosidase like protein 2 | Q9BV94 |
| C0036341 | Schizophrenia | EDEM2 | 55741 | ER degradation enhancing alpha-mannosidase like protein 2 | Q9BV94 |
| C0019196 | Hepatitis C | EDEM3 | 80267 | ER degradation enhancing alpha-mannosidase like protein 3 | Q9BZQ6 |
| C0600139 | Prostate carcinoma | EDEM3 | 80267 | ER degradation enhancing alpha-mannosidase like protein 3 | Q9BZQ6 |
| C2239176 | Liver carcinoma | FBXO17 | 115290 | F-box protein 17 | Q96EF6 |
| C0006826 | Malignant Neoplasms | FBXO17 | 115290 | F-box protein 17 | Q96EF6 |
| C0555198 | Malignant Glioma | FBXO17 | 115290 | F-box protein 17 | Q96EF6 |
