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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 |
|---|---|---|---|---|---|
| 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 |
| C0948008 | Ischemic stroke | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0524620 | Metabolic Syndrome X | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0035344 | Retinopathy of Prematurity | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0003125 | Anorexia Nervosa | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0279671 | Cervical Squamous Cell Carcinoma | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0023212 | Left-Sided Heart Failure | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0018801 | Heart failure | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C1956346 | Coronary Artery Disease | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0007222 | Cardiovascular Diseases | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0036341 | Schizophrenia | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0020538 | Hypertensive disease | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0745103 | Hyperlipoproteinemia Type IIa | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0024117 | Chronic Obstructive Airway Disease | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0346647 | Malignant neoplasm of pancreas | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0001418 | Adenocarcinoma | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0235974 | Pancreatic carcinoma | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0028960 | Oligospermia | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
