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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 ▲ |
|---|---|---|---|---|---|
| C0162670 | Mitochondrial Myopathies | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0085078 | Lysosomal Storage Diseases | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0878544 | Cardiomyopathies | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C1285162 | Degenerative disorder | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0086445 | Idiopathic Membranous Glomerulonephritis | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0021051 | Immunologic Deficiency Syndromes | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0027651 | Neoplasms | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0027868 | Neuromuscular Diseases | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0016522 | Foramen Ovale, Patent | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0238461 | Anaplastic thyroid carcinoma | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C1856689 | FRIEDREICH ATAXIA 1 | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0017665 | Membranous glomerulonephritis | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0004135 | Ataxia Telangiectasia | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0282160 | Aplasia Cutis Congenita | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C1384666 | hearing impairment | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0007758 | Cerebellar Ataxia | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0025517 | Metabolic Diseases | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0003486 | Aortic Aneurysm | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0917713 | Becker Muscular Dystrophy | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0016719 | Friedreich Ataxia | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0035232 | Respiratory Paralysis | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0393588 | Dystonia, Paroxysmal | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0024141 | Lupus Erythematosus, Systemic | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0008312 | Primary biliary cirrhosis | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
