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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 |
|---|---|---|---|---|---|
| C0268237 | Cytochrome-c Oxidase Deficiency | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0238461 | Anaplastic thyroid carcinoma | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0027651 | Neoplasms | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0016719 | Friedreich Ataxia | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0017921 | Glycogen storage disease type II | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0004135 | Ataxia Telangiectasia | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0917713 | Becker Muscular Dystrophy | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0026848 | Myopathy | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0241005 | Creatine phosphokinase serum increased | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0878544 | Cardiomyopathies | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C1285162 | Degenerative disorder | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0231341 | Premature aging syndrome | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C1328252 | Mucocutaneous leishmaniasis | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0002312 | alpha-Thalassemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0023283 | Leishmaniasis, Cutaneous | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0007222 | Cardiovascular Diseases | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0751606 | Adult Acute Lymphocytic Leukemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0042373 | Vascular Diseases | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0023434 | Chronic Lymphocytic Leukemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0022658 | Kidney Diseases | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0206729 | Neurofibrosarcoma | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0008370 | Cholestasis | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0002881 | Anemia, Hemolytic, Congenital | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C3150651 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0002878 | Anemia, Hemolytic | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
