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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 |
|---|---|---|---|---|---|
| C1263846 | Attention deficit hyperactivity disorder | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0393524 | Cerebellar Ataxia, Late Onset | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0025517 | Metabolic Diseases | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0021051 | Immunologic Deficiency Syndromes | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0016522 | Foramen Ovale, Patent | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C3539168 | PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0017923 | Glycogen Storage Disease Type IV | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0282160 | Aplasia Cutis Congenita | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0085078 | Lysosomal Storage Diseases | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C1856689 | FRIEDREICH ATAXIA 1 | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0002986 | Fabry Disease | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0035232 | Respiratory Paralysis | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0007758 | Cerebellar Ataxia | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0086445 | Idiopathic Membranous Glomerulonephritis | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0017665 | Membranous glomerulonephritis | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0007194 | Hypertrophic Cardiomyopathy | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0342751 | Generalized glycogen storage disease of infants | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0027868 | Neuromuscular Diseases | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C1384666 | hearing impairment | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0751173 | Glycogen Storage Disease Type II, Infantile | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C1968741 | Glycogen Storage Disease IIIC | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0162670 | Mitochondrial Myopathies | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0017919 | Glycogen Storage Disease | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0003486 | Aortic Aneurysm | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | GAA | 2548 | glucosidase alpha, acid | P10253 |
