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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 |
|---|---|---|---|---|---|
| C0023529 | Leukomalacia, Periventricular | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0038379 | Strabismus | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C2931779 | Congenital defect of skull and scalp | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0020541 | Portal Hypertension | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0001430 | Adenoma | ENPP7 | 339221 | ectonucleotide pyrophosphatase/phosphodiesterase 7 | Q6UWV6 |
| C0699790 | Colon Carcinoma | ENPP7 | 339221 | ectonucleotide pyrophosphatase/phosphodiesterase 7 | Q6UWV6 |
| C0003850 | Arteriosclerosis | ENPP7 | 339221 | ectonucleotide pyrophosphatase/phosphodiesterase 7 | Q6UWV6 |
| C0010674 | Cystic Fibrosis | ENPP7 | 339221 | ectonucleotide pyrophosphatase/phosphodiesterase 7 | Q6UWV6 |
| C0009375 | Colonic Neoplasms | ENPP7 | 339221 | ectonucleotide pyrophosphatase/phosphodiesterase 7 | Q6UWV6 |
| C0004153 | Atherosclerosis | ENPP7 | 339221 | ectonucleotide pyrophosphatase/phosphodiesterase 7 | Q6UWV6 |
| C0007102 | Malignant tumor of colon | ENPP7 | 339221 | ectonucleotide pyrophosphatase/phosphodiesterase 7 | Q6UWV6 |
| C0027651 | Neoplasms | ENPP7 | 339221 | ectonucleotide pyrophosphatase/phosphodiesterase 7 | Q6UWV6 |
| C0032580 | Adenomatous Polyposis Coli | ENPP7 | 339221 | ectonucleotide pyrophosphatase/phosphodiesterase 7 | Q6UWV6 |
| C0699790 | Colon Carcinoma | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
| C0027651 | Neoplasms | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
| C0006826 | Malignant Neoplasms | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
| C0007134 | Renal Cell Carcinoma | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
| C0018621 | Hay fever | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
| C2607914 | Allergic rhinitis (disorder) | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
| C1306459 | Primary malignant neoplasm | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
| C0023461 | Leukemia, Mast-Cell | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
| C0949570 | Wheat Hypersensitivity | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
| C0740277 | Bile duct carcinoma | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
| C0024899 | Mastocytosis | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
