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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 |
|---|---|---|---|---|---|
| C0282577 | Congenital Disorders of Glycosylation | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0282577 | Congenital Disorders of Glycosylation | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0282577 | Congenital Disorders of Glycosylation | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0282577 | Congenital Disorders of Glycosylation | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0282577 | Congenital Disorders of Glycosylation | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C2752007 | Congenital Disorder of Glycosylation, Type Io | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C1835849 | Congenital Disorder Of Glycosylation, Type Im | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C1970021 | Congenital Disorder Of Glycosylation, Type IIH | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C1970344 | Congenital Disorder Of Glycosylation, Type IIF | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C1853736 | Congenital Disorder Of Glycosylation, Type IIB | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0000768 | Congenital Abnormality | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0000768 | Congenital Abnormality | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0000768 | Congenital Abnormality | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0000768 | Congenital Abnormality | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0000768 | Congenital Abnormality | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0000768 | Congenital Abnormality | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0000768 | Congenital Abnormality | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0000768 | Congenital Abnormality | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0000768 | Congenital Abnormality | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0000768 | Congenital Abnormality | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
