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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 |
|---|---|---|---|---|---|
| C1859995 | Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C1860042 | Antley-Bixler Syndrome with Disordered Steroidogenesis | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C1860224 | ABLEPHARON-MACROSTOMIA SYNDROME | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1860707 | TUBEROUS SCLEROSIS 2 (disorder) | NTHL1 | 4913 | nth like DNA glycosylase 1 | P78549 |
| C1860707 | TUBEROUS SCLEROSIS 2 (disorder) | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C1860707 | TUBEROUS SCLEROSIS 2 (disorder) | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1860787 | DOWN SYNDROME CRITICAL REGION | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C1860787 | DOWN SYNDROME CRITICAL REGION | TNFRSF10C | 8794 | TNF receptor superfamily member 10c | O14798 |
| C1860787 | DOWN SYNDROME CRITICAL REGION | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C1860787 | DOWN SYNDROME CRITICAL REGION | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C1860787 | DOWN SYNDROME CRITICAL REGION | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C1860808 | Triosephosphate Isomerase Deficiency | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C1860819 | Metopic synostosis | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1861028 | Esophageal atresia with or without tracheoesophageal fistula | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C1861028 | Esophageal atresia with or without tracheoesophageal fistula | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C1861063 | TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C1861172 | Venous Thromboembolism | B3GAT2 | 135152 | beta-1,3-glucuronyltransferase 2 | Q9NPZ5 |
| C1861172 | Venous Thromboembolism | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1861172 | Venous Thromboembolism | GBGT1 | 26301 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) | Q8N5D6 |
| C1861172 | Venous Thromboembolism | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1861172 | Venous Thromboembolism | A4GALT | 53947 | alpha 1,4-galactosyltransferase (P blood group) | Q9NPC4 |
| C1861172 | Venous Thromboembolism | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C1861172 | Venous Thromboembolism | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C1861172 | Venous Thromboembolism | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1861172 | Venous Thromboembolism | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
