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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 ▼ |
|---|---|---|---|---|---|
| C0751780 | Biotin-Responsive Encephalopathy | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0684249 | Carcinoma of lung | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0870082 | Hyperkeratosis | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0036341 | Schizophrenia | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0278878 | Adult Glioblastoma | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0025289 | Meningitis | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0019270 | Hernia | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0025202 | melanoma | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0750952 | Biliary Tract Cancer | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0013336 | Dwarfism | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C1956346 | Coronary Artery Disease | PAFAH2 | 5051 | platelet activating factor acetylhydrolase 2 | Q99487 |
| C1306459 | Primary malignant neoplasm | PCYT2 | 5833 | phosphate cytidylyltransferase 2, ethanolamine | Q99447 |
| C0235946 | Cerebral atrophy | PCYT2 | 5833 | phosphate cytidylyltransferase 2, ethanolamine | Q99447 |
| C0006826 | Malignant Neoplasms | PCYT2 | 5833 | phosphate cytidylyltransferase 2, ethanolamine | Q99447 |
| C0037773 | Spastic Paraplegia, Hereditary | PCYT2 | 5833 | phosphate cytidylyltransferase 2, ethanolamine | Q99447 |
| C0027651 | Neoplasms | PCYT2 | 5833 | phosphate cytidylyltransferase 2, ethanolamine | Q99447 |
| C0268292 | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | GML | 2765 | glycosylphosphatidylinositol anchored molecule like | Q99445 |
| C0014859 | Esophageal Neoplasms | GML | 2765 | glycosylphosphatidylinositol anchored molecule like | Q99445 |
| C0278878 | Adult Glioblastoma | GML | 2765 | glycosylphosphatidylinositol anchored molecule like | Q99445 |
| C0017636 | Glioblastoma | GML | 2765 | glycosylphosphatidylinositol anchored molecule like | Q99445 |
| C0007222 | Cardiovascular Diseases | GML | 2765 | glycosylphosphatidylinositol anchored molecule like | Q99445 |
| C0006826 | Malignant Neoplasms | GML | 2765 | glycosylphosphatidylinositol anchored molecule like | Q99445 |
| C1621958 | Glioblastoma Multiforme | GML | 2765 | glycosylphosphatidylinositol anchored molecule like | Q99445 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | GML | 2765 | glycosylphosphatidylinositol anchored molecule like | Q99445 |
| C1306459 | Primary malignant neoplasm | GML | 2765 | glycosylphosphatidylinositol anchored molecule like | Q99445 |
