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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 |
|---|---|---|---|---|---|
| C0014550 | Myoclonic Epilepsy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0162672 | MERRF Syndrome | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0027651 | Neoplasms | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0796206 | Atkin syndrome | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C1332979 | Childhood Lymphoma | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0497327 | Dementia | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0235946 | Cerebral atrophy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751782 | May-White Syndrome | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0033975 | Psychotic Disorders | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751776 | Atypical Inclusion-Body Disease | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0003635 | Apraxias | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751777 | Familial Progressive Myoclonic Epilepsy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| 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 |
| C0030567 | Parkinson Disease | ELOVL7 | 79993 | ELOVL fatty acid elongase 7 | A1L3X0 |
