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 |
---|---|---|---|---|---|
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 |
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 |
C4721453 | Peripheral Nervous System Diseases | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
C4721453 | Peripheral Nervous System Diseases | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
C4721453 | Peripheral Nervous System Diseases | GLA | 2717 | galactosidase alpha | P06280 |
C4721453 | Peripheral Nervous System Diseases | ARSA | 410 | arylsulfatase A | P15289 |
C4721453 | Peripheral Nervous System Diseases | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
C4721453 | Peripheral Nervous System Diseases | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C4721453 | Peripheral Nervous System Diseases | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
C4721453 | Peripheral Nervous System Diseases | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
C4721453 | Peripheral Nervous System Diseases | HPSE | 10855 | heparanase | Q9Y251 |
C4721453 | Peripheral Nervous System Diseases | TYMP | 1890 | thymidine phosphorylase | P19971 |
C4721453 | Peripheral Nervous System Diseases | ENO2 | 2026 | enolase 2 | P09104 |
C4721453 | Peripheral Nervous System Diseases | SARM1 | 23098 | sterile alpha and TIR motif containing 1 | Q6SZW1 |
C4721453 | Peripheral Nervous System Diseases | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
C4721453 | Peripheral Nervous System Diseases | HK1 | 3098 | hexokinase 1 | P19367 |
C4721453 | Peripheral Nervous System Diseases | LYZ | 4069 | lysozyme | P61626 |
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Last updated: August 19, 2024