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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 |
|---|---|---|---|---|---|
| C0266539 | Congenital total cataract | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0266539 | Congenital total cataract | LSS | 4047 | lanosterol synthase | P48449 |
| C0266476 | Congenital stenosis of aqueduct of Sylvius | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0152417 | Congenital stenosis of aortic valve | ENO3 | 2027 | enolase 3 | P13929 |
| C0267663 | Congenital secretory diarrhea, sodium type (disorder) | CALR | 811 | calreticulin | P27797 |
| C0267663 | Congenital secretory diarrhea, sodium type (disorder) | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0302892 | Congenital porencephaly | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0795690 | Congenital omphalocele | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0795690 | Congenital omphalocele | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0795690 | Congenital omphalocele | GPC3 | 2719 | glypican 3 | P51654 |
| C0795690 | Congenital omphalocele | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0795690 | Congenital omphalocele | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0009363 | Congenital ocular coloboma (disorder) | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0009363 | Congenital ocular coloboma (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0009363 | Congenital ocular coloboma (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0009363 | Congenital ocular coloboma (disorder) | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0009363 | Congenital ocular coloboma (disorder) | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0009363 | Congenital ocular coloboma (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0009363 | Congenital ocular coloboma (disorder) | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0009363 | Congenital ocular coloboma (disorder) | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0009363 | Congenital ocular coloboma (disorder) | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0009363 | Congenital ocular coloboma (disorder) | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0009363 | Congenital ocular coloboma (disorder) | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0009363 | Congenital ocular coloboma (disorder) | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0009363 | Congenital ocular coloboma (disorder) | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
