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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 ▲ |
|---|---|---|---|---|---|
| C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0233794 | Memory impairment | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C3463824 | MYELODYSPLASTIC SYNDROME | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0270824 | Visual seizure | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0342708 | Gamma aminobutyric acid transaminase deficiency | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C1510586 | Autism Spectrum Disorders | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0014544 | Epilepsy | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0238111 | Lennox-Gastaut syndrome | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0037769 | West Syndrome | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0242422 | Parkinsonian Disorders | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0006826 | Malignant Neoplasms | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0282513 | Primary Progressive Aphasia (disorder) | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0004352 | Autistic Disorder | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0751494 | Convulsive Seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C1306459 | Primary malignant neoplasm | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0751495 | Seizures, Focal | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0036572 | Seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0376545 | Hematologic Neoplasms | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0270857 | Epilepsy, Reflex | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0027651 | Neoplasms | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0525045 | Mood Disorders | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0020179 | Huntington Disease | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0029408 | Degenerative polyarthritis | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0002622 | Amnesia | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0019337 | Heroin Dependence | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
