Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|---|---|
| C1857663 | Yunis Varon syndrome | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1857395 | De Toni-Debre-Fanconi Syndrome | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C1857395 | De Toni-Debre-Fanconi Syndrome | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C1857395 | De Toni-Debre-Fanconi Syndrome | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C1857395 | De Toni-Debre-Fanconi Syndrome | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C1857395 | De Toni-Debre-Fanconi Syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1857389 | Cystinuria, Type B | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C1857388 | Cystinuria, Type A | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C1857355 | Leigh syndrome , French Canadian type | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C1857276 | Trichohepatoenteric Syndrome | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1857276 | Trichohepatoenteric Syndrome | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C1857276 | Trichohepatoenteric Syndrome | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C1857276 | Trichohepatoenteric Syndrome | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C1857276 | Trichohepatoenteric Syndrome | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C1857276 | Trichohepatoenteric Syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C1857276 | Trichohepatoenteric Syndrome | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C1857276 | Trichohepatoenteric Syndrome | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C1857276 | Trichohepatoenteric Syndrome | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C1857276 | Trichohepatoenteric Syndrome | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C1857276 | Trichohepatoenteric Syndrome | CALR | 811 | calreticulin | P27797 |
| C1857276 | Trichohepatoenteric Syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1857276 | Trichohepatoenteric Syndrome | TNKS | 8658 | tankyrase | O95271 |
| C1857276 | Trichohepatoenteric Syndrome | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1857276 | Trichohepatoenteric Syndrome | CHGA | 1113 | chromogranin A | P10645 |
| C1857276 | Trichohepatoenteric Syndrome | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
