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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 |
|---|---|---|---|---|---|
| C0029434 | Osteogenesis Imperfecta | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C0029434 | Osteogenesis Imperfecta | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0264009 | Osteodystrophy | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0029429 | Osteochondrosis | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0206641 | Osteochondromatosis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0206641 | Osteochondromatosis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0206641 | Osteochondromatosis | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C0206641 | Osteochondromatosis | UXS1 | 80146 | UDP-glucuronate decarboxylase 1 | Q8NBZ7 |
| C0206641 | Osteochondromatosis | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0206641 | Osteochondromatosis | SDC2 | 6383 | syndecan 2 | P34741 |
| C0029422 | Osteochondrodysplasias | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0029422 | Osteochondrodysplasias | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0029422 | Osteochondrodysplasias | SLC35D1 | 23169 | solute carrier family 35 member D1 | Q9NTN3 |
| C0029422 | Osteochondrodysplasias | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0029422 | Osteochondrodysplasias | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0029422 | Osteochondrodysplasias | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C0029422 | Osteochondrodysplasias | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0029422 | Osteochondrodysplasias | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0029422 | Osteochondrodysplasias | CHST1 | 8534 | carbohydrate sulfotransferase 1 | O43916 |
| C0029422 | Osteochondrodysplasias | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0029422 | Osteochondrodysplasias | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0029422 | Osteochondrodysplasias | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0029422 | Osteochondrodysplasias | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0029422 | Osteochondrodysplasias | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0029422 | Osteochondrodysplasias | IDUA | 3425 | alpha-L-iduronidase | P35475 |
