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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 |
|---|---|---|---|---|---|
| C0014457 | Eosinophilia | HS2ST1 | 9653 | heparan sulfate 2-O-sulfotransferase 1 | Q7LGA3 |
| C0025202 | melanoma | HS2ST1 | 9653 | heparan sulfate 2-O-sulfotransferase 1 | Q7LGA3 |
| C0024897 | Mastocytoma | HS2ST1 | 9653 | heparan sulfate 2-O-sulfotransferase 1 | Q7LGA3 |
| C2242987 | Benign Mastocytoma | HS2ST1 | 9653 | heparan sulfate 2-O-sulfotransferase 1 | Q7LGA3 |
| C0334664 | Mast Cell Neoplasm | HS2ST1 | 9653 | heparan sulfate 2-O-sulfotransferase 1 | Q7LGA3 |
| C1306759 | Eosinophilic disorder | HS2ST1 | 9653 | heparan sulfate 2-O-sulfotransferase 1 | Q7LGA3 |
| C0025362 | Mental Retardation | PLCH2 | 9651 | phospholipase C eta 2 | O75038 |
| C0036341 | Schizophrenia | PLCH2 | 9651 | phospholipase C eta 2 | O75038 |
| C3714756 | Intellectual Disability | PLCH2 | 9651 | phospholipase C eta 2 | O75038 |
| C0004509 | Azoospermia | PLCH2 | 9651 | phospholipase C eta 2 | O75038 |
| C0002874 | Aplastic Anemia | CD48 | 962 | CD48 molecule | P09326 |
| C0751606 | Adult Acute Lymphocytic Leukemia | CD48 | 962 | CD48 molecule | P09326 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | CD48 | 962 | CD48 molecule | P09326 |
| C0017531 | Angiolymphoid hyperplasia | CD48 | 962 | CD48 molecule | P09326 |
| C0030312 | Pancytopenia | CD48 | 962 | CD48 molecule | P09326 |
| C0024141 | Lupus Erythematosus, Systemic | CD48 | 962 | CD48 molecule | P09326 |
| C1332206 | Adult Lymphoma | CD48 | 962 | CD48 molecule | P09326 |
| C0023452 | Childhood Acute Lymphoblastic Leukemia | CD48 | 962 | CD48 molecule | P09326 |
| C1332979 | Childhood Lymphoma | CD48 | 962 | CD48 molecule | P09326 |
| C0004096 | Asthma | CD48 | 962 | CD48 molecule | P09326 |
| C0036341 | Schizophrenia | CD48 | 962 | CD48 molecule | P09326 |
| C1096184 | West Nile viral infection | CD48 | 962 | CD48 molecule | P09326 |
| C1332977 | Childhood Leukemia | CD48 | 962 | CD48 molecule | P09326 |
| C0024198 | Lyme Disease | CD48 | 962 | CD48 molecule | P09326 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | CD48 | 962 | CD48 molecule | P09326 |
