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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 ▲ |
|---|---|---|---|---|---|
| C1848922 | Hexosaminidase alpha-Subunit Deficiency (Variant B) | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0003873 | Rheumatoid Arthritis | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0497327 | Dementia | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C1332979 | Childhood Lymphoma | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0017083 | Gangliosidoses | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0017205 | Gaucher Disease | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0524851 | Neurodegenerative Disorders | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C1306459 | Primary malignant neoplasm | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C2749283 | Gm2-Gangliosidosis, Variant B1 | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0028754 | Obesity | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0017638 | Glioma | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0006826 | Malignant Neoplasms | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0238286 | Mucolipidosis Type IV | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0025521 | Inborn Errors of Metabolism | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0024299 | Lymphoma | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0456909 | Blindness | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0002736 | Amyotrophic Lateral Sclerosis | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0268275 | Tay-Sachs Disease, AB Variant | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0026847 | Spinal Muscular Atrophy | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0024623 | Malignant neoplasm of stomach | LIPF | 8513 | lipase F, gastric type | P07098 |
| C0043208 | Wolman Disease | LIPF | 8513 | lipase F, gastric type | P07098 |
| C0699791 | Stomach Carcinoma | LIPF | 8513 | lipase F, gastric type | P07098 |
| C0005695 | Bladder Neoplasm | LDHB | 3945 | lactate dehydrogenase B | P07195 |
| C0376358 | Malignant neoplasm of prostate | LDHB | 3945 | lactate dehydrogenase B | P07195 |
| C0009402 | Colorectal Carcinoma | LDHB | 3945 | lactate dehydrogenase B | P07195 |
