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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 |
|---|---|---|---|---|---|
| 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 |
| C3809092 | ADAMS-OLIVER SYNDROME 4 | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0026010 | Microphthalmos | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C4551482 | Adams-Oliver syndrome 1 | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0040034 | Thrombocytopenia | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0282160 | Aplasia Cutis Congenita | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0265268 | Adams Oliver syndrome | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0003857 | Congenital arteriovenous malformation | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0086543 | Cataract | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0023530 | Leukopenia | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0002170 | Alopecia | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0036572 | Seizures | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C1301937 | Talipes | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C3714756 | Intellectual Disability | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0020255 | Hydrocephalus | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0009714 | Hepatic Fibrosis, Congenital | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
