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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 |
|---|---|---|---|---|---|
| C0004775 | Bartter Disease | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0004779 | Basal Cell Nevus Syndrome | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0004779 | Basal Cell Nevus Syndrome | HPSE | 10855 | heparanase | Q9Y251 |
| C0004779 | Basal Cell Nevus Syndrome | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0004779 | Basal Cell Nevus Syndrome | SLC2A3 | 6515 | solute carrier family 2 member 3 | P11169 |
| C0004779 | Basal Cell Nevus Syndrome | GPC3 | 2719 | glypican 3 | P51654 |
| C0004779 | Basal Cell Nevus Syndrome | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0004779 | Basal Cell Nevus Syndrome | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0004782 | Basal Ganglia Diseases | ST8SIA3 | 51046 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 | O43173 |
| C0004903 | Beckwith-Wiedemann Syndrome | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0004903 | Beckwith-Wiedemann Syndrome | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0004903 | Beckwith-Wiedemann Syndrome | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0004903 | Beckwith-Wiedemann Syndrome | LGALS1 | 3956 | galectin 1 | P09382 |
| C0004903 | Beckwith-Wiedemann Syndrome | CD48 | 962 | CD48 molecule | P09326 |
| C0004903 | Beckwith-Wiedemann Syndrome | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0004903 | Beckwith-Wiedemann Syndrome | GPC3 | 2719 | glypican 3 | P51654 |
| C0004903 | Beckwith-Wiedemann Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0004903 | Beckwith-Wiedemann Syndrome | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
| C0004930 | Behavior Disorders | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0004930 | Behavior Disorders | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0004930 | Behavior Disorders | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
| C0004930 | Behavior Disorders | ARSD | 414 | arylsulfatase D | P51689 |
| C0004936 | Mental disorders | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0004936 | Mental disorders | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0004936 | Mental disorders | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
