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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 |
|---|---|---|---|---|---|
| C4721453 | Peripheral Nervous System Diseases | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C4721453 | Peripheral Nervous System Diseases | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C4721453 | Peripheral Nervous System Diseases | PRNP | 5621 | prion protein | F7VJQ1 |
| C4721453 | Peripheral Nervous System Diseases | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C4721453 | Peripheral Nervous System Diseases | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C4721453 | Peripheral Nervous System Diseases | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C4721453 | Peripheral Nervous System Diseases | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C4721453 | Peripheral Nervous System Diseases | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C4721444 | Burkitt Leukemia | A4GALT | 53947 | alpha 1,4-galactosyltransferase (P blood group) | Q9NPC4 |
| C4721444 | Burkitt Leukemia | PC | 5091 | pyruvate carboxylase | P11498 |
| C4721444 | Burkitt Leukemia | CD22 | 933 | CD22 molecule | P20273 |
| C4721444 | Burkitt Leukemia | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | VCAN | 1462 | versican | P13611 |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C4706552 | Familial vesicoureteral reflux | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C4692625 | SHWACHMAN-DIAMOND SYNDROME 1 | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C4692564 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C4692564 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 | KL | 9365 | klotho | Q9UEF7 |
| C4554007 | Uveoretinal Coloboma | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C4552100 | Lynch Syndrome | COMT | 1312 | catechol-O-methyltransferase | P21964 |
