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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 ▼ |
|---|---|---|---|---|---|
| C0040034 | Thrombocytopenia | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0007959 | Charcot-Marie-Tooth Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0270736 | Essential Tremor | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0024299 | Lymphoma | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0520947 | Clumsiness - motor delay | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1306459 | Primary malignant neoplasm | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0027819 | Neuroblastoma | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0024305 | Lymphoma, Non-Hodgkin | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0027543 | Avascular necrosis of bone | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1096184 | West Nile viral infection | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0344315 | Depressed mood | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0042025 | Urinary Stress Incontinence | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0751783 | Lafora Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
| C4721532 | Lymphoma, Non-Hodgkin, Familial | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1384666 | hearing impairment | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0870082 | Hyperkeratosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0013421 | Dystonia | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0023794 | Lipoidosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0039373 | Tay-Sachs Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0271385 | Horizontal Nystagmus | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0235946 | Cerebral atrophy | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0033687 | Proteinuria | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0038868 | Progressive supranuclear palsy | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0220756 | Niemann-Pick Disease, Type C | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0037268 | Skin Abnormalities | GBA | 2629 | glucosylceramidase beta | P04062 |
