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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 ▲ |
|---|---|---|---|---|---|
| C0032131 | Plasmacytoma | LPL | 4023 | lipoprotein lipase | P06858 |
| C0020615 | Hypoglycemia | LPL | 4023 | lipoprotein lipase | P06858 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | LPL | 4023 | lipoprotein lipase | P06858 |
| C0026769 | Multiple Sclerosis | LPL | 4023 | lipoprotein lipase | P06858 |
| C0205698 | Undifferentiated carcinoma | LPL | 4023 | lipoprotein lipase | P06858 |
| C1848916 | Tay-Sachs Disease, Variant B1 | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0039373 | Tay-Sachs Disease | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0030567 | Parkinson Disease | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0152109 | Juvenile Spinal Muscular Atrophy | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0268274 | Gangliosidoses, GM2 | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0036572 | Seizures | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0019693 | HIV Infections | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C1332206 | Adult Lymphoma | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0019829 | Hodgkin Disease | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C1384666 | hearing impairment | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C3714756 | Intellectual Disability | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0042798 | Low Vision | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0036161 | Sandhoff Disease | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C1848913 | Tay-Sachs Disease, Juvenile | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0085078 | Lysosomal Storage Diseases | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C1258104 | Diffuse Scleroderma | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0026650 | Movement Disorders | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0002895 | Anemia, Sickle Cell | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0010674 | Cystic Fibrosis | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C1848914 | Hexosaminidase A Deficiency, Adult Type | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
