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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 |
|---|---|---|---|---|---|
| C0017638 | Glioma | CD48 | 962 | CD48 molecule | P09326 |
| C1844777 | CONE DYSTROPHY, X-LINKED, 1 | CD48 | 962 | CD48 molecule | P09326 |
| C0011615 | Dermatitis, Atopic | CD48 | 962 | CD48 molecule | P09326 |
| C0014070 | Encephalomyelitis | CD48 | 962 | CD48 molecule | P09326 |
| C0006826 | Malignant Neoplasms | CD48 | 962 | CD48 molecule | P09326 |
| C0023449 | Acute lymphocytic leukemia | CD48 | 962 | CD48 molecule | P09326 |
| C0042769 | Virus Diseases | CD48 | 962 | CD48 molecule | P09326 |
| C0021400 | Influenza | CD48 | 962 | CD48 molecule | P09326 |
| 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 |
| 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 |
| C1857276 | Trichohepatoenteric Syndrome | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0002876 | Congenital dyserythropoietic anemia | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0011849 | Diabetes Mellitus | LPIN2 | 9663 | lipin 2 | Q92539 |
| C1834531 | MYOPIA 2 (disorder) | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0011847 | Diabetes | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0002871 | Anemia | LPIN2 | 9663 | lipin 2 | Q92539 |
