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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 |
|---|---|---|---|---|---|
| C0020538 | Hypertensive disease | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0032461 | Polycythemia | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0007115 | Malignant neoplasm of thyroid | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0014877 | Esotropia | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0025362 | Mental Retardation | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0027765 | nervous system disorder | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0026650 | Movement Disorders | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0549473 | Thyroid carcinoma | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0085584 | Encephalopathies | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0006142 | Malignant neoplasm of breast | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0038379 | Strabismus | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0154251 | Lipid Metabolism Disorders | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0036572 | Seizures | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0002895 | Anemia, Sickle Cell | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0751093 | Dystonia, Limb | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0235991 | Small for gestational age (disorder) | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0040136 | Thyroid Neoplasm | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| 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 |
| C1855565 | Pyruvate Dehydrogenase E2 Deficiency | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C4721555 | Autoimmune hepatitis | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0409974 | Lupus Erythematosus | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
