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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 ▼ |
|---|---|---|---|---|---|
| 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 |
| C3203102 | Idiopathic pulmonary arterial hypertension | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0039685 | Tetralogy of Fallot | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| 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 |
| C0028754 | Obesity | SLC35D3 | 340146 | solute carrier family 35 member D3 | Q5M8T2 |
| C0079504 | Hermanski-Pudlak Syndrome | SLC35D3 | 340146 | solute carrier family 35 member D3 | Q5M8T2 |
| C0524620 | Metabolic Syndrome X | SLC35D3 | 340146 | solute carrier family 35 member D3 | Q5M8T2 |
| C0242994 | Hantavirus Infections | SLC35D3 | 340146 | solute carrier family 35 member D3 | Q5M8T2 |
| C0013170 | Drug habituation | COLEC12 | 81035 | collectin subfamily member 12 | Q5KU26 |
| C0026769 | Multiple Sclerosis | COLEC12 | 81035 | collectin subfamily member 12 | Q5KU26 |
| C0013146 | Drug abuse | COLEC12 | 81035 | collectin subfamily member 12 | Q5KU26 |
