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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 ▼ |
|---|---|---|---|---|---|
| C0751406 | Post-Traumatic Osteoporosis | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
| C0006142 | Malignant neoplasm of breast | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
| C3642345 | Luminal A Breast Carcinoma | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
| C0001787 | Osteoporosis, Age-Related | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
| C0029456 | Osteoporosis | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
| C0678222 | Breast Carcinoma | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
| C0751783 | Lafora Disease | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751778 | Myoclonic Epilepsies, Progressive | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0206687 | Carcinoma, Endometrioid | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0684276 | Hypsarrhythmia | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0014544 | Epilepsy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0476254 | Dyslexia | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0524851 | Neurodegenerative Disorders | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C1850764 | EPILEPSY, PROGRESSIVE MYOCLONIC 2B | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751779 | Action Myoclonus-Renal Failure Syndrome | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0011581 | Depressive disorder | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C1332206 | Adult Lymphoma | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751780 | Biotin-Responsive Encephalopathy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0036341 | Schizophrenia | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0598798 | Lymphoid neoplasm | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0023186 | Learning Disorders | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0024299 | Lymphoma | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0038220 | Status Epilepticus | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751785 | Unverricht-Lundborg Syndrome | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
