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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 ▲ |
|---|---|---|---|---|---|
| C0086543 | Cataract | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C2720163 | Placental Steroid Sulfatase Deficiency | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C3714756 | Intellectual Disability | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0036341 | Schizophrenia | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0026703 | Mucopolysaccharidoses | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0020757 | Ichthyoses | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C4014261 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C3665347 | Visual Impairment | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0026769 | Multiple Sclerosis | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0678222 | Breast Carcinoma | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C1384666 | hearing impairment | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0013336 | Dwarfism | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0035304 | Retinal Degeneration | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0023418 | leukemia | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C3714534 | dowling-degos disease | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0023467 | Leukemia, Myelocytic, Acute | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C3463824 | MYELODYSPLASTIC SYNDROME | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C1332977 | Childhood Leukemia | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0279592 | Adult T Acute Lymphoblastic Leukemia | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0007131 | Non-Small Cell Lung Carcinoma | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C3810313 | DOWLING-DEGOS DISEASE 4 | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0006826 | Malignant Neoplasms | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C4552092 | Dowling-Degos disease 1 | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0699790 | Colon Carcinoma | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C1306459 | Primary malignant neoplasm | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
