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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 |
| C0024530 | Malaria | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
| C0029459 | Osteoporosis, Senile | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
| 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 |
| C2748515 | Spondyloepimetaphyseal Dysplasia, Pakistani Type | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0000768 | Congenital Abnormality | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0220726 | Diastrophic dysplasia | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0013336 | Dwarfism | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0003128 | Anovulation | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
