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 |
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DisGeNET | July 29, 2024 |
Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
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 |
C0004782 | Basal Ganglia Diseases | ST8SIA3 | 51046 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 | O43173 |
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 |
C0004775 | Bartter Disease | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
C0004775 | Bartter Disease | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
C0004775 | Bartter Disease | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
C0004775 | Bartter Disease | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C0004763 | Barrett Esophagus | B3GAT2 | 135152 | beta-1,3-glucuronyltransferase 2 | Q9NPZ5 |
C0004763 | Barrett Esophagus | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
C0004763 | Barrett Esophagus | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
C0004763 | Barrett Esophagus | CHST11 | 50515 | carbohydrate sulfotransferase 11 | Q9NPF2 |
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Last updated: August 19, 2024