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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 ▲ |
|---|---|---|---|---|---|
| C0013336 | Dwarfism | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0271650 | Impaired glucose tolerance | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0600452 | Hepatopulmonary Syndrome | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0012236 | DiGeorge Syndrome | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0239946 | Fibrosis, Liver | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0006826 | Malignant Neoplasms | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0086132 | Depressive Symptoms | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0037822 | Speech Disorders | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0014877 | Esotropia | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0014175 | Endometriosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0023530 | Leukopenia | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0002395 | Alzheimer's Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0029408 | Degenerative polyarthritis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0018802 | Congestive heart failure | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | GBA | 2629 | glucosylceramidase beta | P04062 |
| 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 |
