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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 ▼ |
|---|---|---|---|---|---|
| C0008445 | Chondrodysplasia Punctata | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0020255 | Hydrocephalus | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0024117 | Chronic Obstructive Airway Disease | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0036572 | Seizures | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C1531647 | Cerebral ventriculomegaly | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| 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 |
| C0235946 | Cerebral atrophy | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0029463 | Osteosarcoma | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0027404 | Narcolepsy | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0302892 | Congenital porencephaly | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C4082173 | Porencephaly | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0036572 | Seizures | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0585442 | Osteosarcoma of bone | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
