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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 ▼ |
|---|---|---|---|---|---|
| C0027651 | Neoplasms | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0008312 | Primary biliary cirrhosis | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0279583 | Childhood T Acute Lymphoblastic Leukemia | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0018939 | Hematological Disease | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0241005 | Creatine phosphokinase serum increased | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0010674 | Cystic Fibrosis | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0018784 | Sensorineural Hearing Loss (disorder) | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0025521 | Inborn Errors of Metabolism | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0268263 | Multiple Sulfatase Deficiency Disease | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0023522 | Leukodystrophy, Metachromatic | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0086651 | Mucopolysaccharidosis, MPS-IV-A | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0085078 | Lysosomal Storage Diseases | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C1720864 | Sulfatidosis, Juvenile, Austin Type | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0006142 | Malignant neoplasm of breast | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0235946 | Cerebral atrophy | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0086647 | Mucopolysaccharidosis Type IIIA | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0086795 | Pfaundler-Hurler Syndrome | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0079588 | Ichthyosis, X-Linked | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0025958 | Microcephaly | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C1306459 | Primary malignant neoplasm | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0029124 | Optic Atrophy | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0087012 | Ataxia, Spinocerebellar | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0027404 | Narcolepsy | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0006826 | Malignant Neoplasms | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0010038 | Corneal Opacity | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
