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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 |
|---|---|---|---|---|---|
| C0151313 | Sensory neuropathy | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0000768 | Congenital Abnormality | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0028738 | Nystagmus | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C1857276 | Trichohepatoenteric Syndrome | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0009319 | Colitis | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0010691 | Cystinuria | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C1848030 | Hypotonia-Cystinuria Syndrome | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0022661 | Kidney Failure, Chronic | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0017636 | Glioblastoma | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C1621958 | Glioblastoma Multiforme | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C1857388 | Cystinuria, Type A | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0027709 | Nephrocalcinosis | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0848548 | hypertensive nephropathy | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0524620 | Metabolic Syndrome X | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0027651 | Neoplasms | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0022650 | Kidney Calculi | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0020598 | Hypocalcemia | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0278878 | Adult Glioblastoma | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0699790 | Colon Carcinoma | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0155626 | Acute myocardial infarction | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0268646 | Isolated cystinuria | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0392525 | Nephrolithiasis | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0027707 | Nephritis, Interstitial | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C1561643 | Chronic Kidney Diseases | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0020619 | Hypogonadism | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
