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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 |
| C0027651 | Neoplasms | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0029124 | Optic Atrophy | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0023418 | leukemia | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0029422 | Osteochondrodysplasias | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0005684 | Malignant neoplasm of urinary bladder | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0023473 | Myeloid Leukemia, Chronic | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0003507 | Aortic Valve Stenosis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0000768 | Congenital Abnormality | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0008445 | Chondrodysplasia Punctata | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C2239176 | Liver carcinoma | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C1384666 | hearing impairment | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C2711227 | Steatohepatitis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0266544 | Microcornea | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0036572 | Seizures | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0023467 | Leukemia, Myelocytic, Acute | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0023470 | Myeloid Leukemia | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0023449 | Acute lymphocytic leukemia | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0264324 | Calcification of trachea | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0238463 | Papillary thyroid carcinoma | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C1956346 | Coronary Artery Disease | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
