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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 |
|---|---|---|---|---|---|
| C0020541 | Portal Hypertension | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0268237 | Cytochrome-c Oxidase Deficiency | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1856305 | GSD IV, Neuromuscular Form, Childhood | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0005697 | Neurogenic Urinary Bladder | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0279626 | Squamous cell carcinoma of esophagus | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0038454 | Cerebrovascular accident | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0011849 | Diabetes Mellitus | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C3714756 | Intellectual Disability | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0026848 | Myopathy | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0751651 | Mitochondrial Diseases | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0027651 | Neoplasms | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0006826 | Malignant Neoplasms | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0023895 | Liver diseases | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0037772 | Spastic Paraplegia | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0342751 | Generalized glycogen storage disease of infants | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1856303 | GSD IV, Neuromuscular Form, Fatal Perinatal | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
