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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 |
|---|---|---|---|---|---|
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | PRSS8 | 5652 | serine protease 8 | Q16651 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1861457 | PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| C1861457 | PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C1861735 | Dementia, familial Danish | GPC1 | 2817 | glypican 1 | P35052 |
| C1861736 | SPINOCEREBELLAR ATAXIA 31 (disorder) | PRNP | 5621 | prion protein | P04156 |
| C1861736 | SPINOCEREBELLAR ATAXIA 31 (disorder) | PRNP | 5621 | prion protein | F7VJQ1 |
| C1861821 | CATARACT, MARNER TYPE | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1861821 | CATARACT, MARNER TYPE | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C1861821 | CATARACT, MARNER TYPE | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1861848 | PARAGANGLIOMAS 4 | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C1861848 | PARAGANGLIOMAS 4 | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C1861848 | PARAGANGLIOMAS 4 | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C1861861 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1861906 | Breast Cancer, Familial Male | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1861922 | CAMPOMELIC DYSPLASIA | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C1861922 | CAMPOMELIC DYSPLASIA | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1861922 | CAMPOMELIC DYSPLASIA | FKTN | 2218 | fukutin | O75072 |
| C1861922 | CAMPOMELIC DYSPLASIA | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1861922 | CAMPOMELIC DYSPLASIA | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C1861922 | CAMPOMELIC DYSPLASIA | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1861922 | CAMPOMELIC DYSPLASIA | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C1861922 | CAMPOMELIC DYSPLASIA | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
