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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 ▲ |
|---|---|---|---|---|---|
| C0410530 | Metachondromatosis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0152441 | Madelung Deformity | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0017665 | Membranous glomerulonephritis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0338451 | Frontotemporal dementia | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0006142 | Malignant neoplasm of breast | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0027543 | Avascular necrosis of bone | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0013336 | Dwarfism | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0042384 | Vasculitis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0004153 | Atherosclerosis | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0239946 | Fibrosis, Liver | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0242379 | Malignant neoplasm of lung | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0024121 | Lung Neoplasms | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0085580 | Essential Hypertension | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C3203102 | Idiopathic pulmonary arterial hypertension | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0006142 | Malignant neoplasm of breast | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0007102 | Malignant tumor of colon | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0007222 | Cardiovascular Diseases | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C3658301 | Mycoplasma-Induced Stevens-Johnson Syndrome | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0027051 | Myocardial Infarction | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0035235 | Respiratory Syncytial Virus Infections | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0020542 | Pulmonary Hypertension | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0038013 | Ankylosing spondylitis | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0036341 | Schizophrenia | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0009402 | Colorectal Carcinoma | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0007137 | Squamous cell carcinoma | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
