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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 | CDH13 | 1012 | cadherin 13 | P55290 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| 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 |
| C1861303 | SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1861172 | Venous Thromboembolism | B3GAT2 | 135152 | beta-1,3-glucuronyltransferase 2 | Q9NPZ5 |
| C1861172 | Venous Thromboembolism | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1861172 | Venous Thromboembolism | GBGT1 | 26301 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) | Q8N5D6 |
| C1861172 | Venous Thromboembolism | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1861172 | Venous Thromboembolism | A4GALT | 53947 | alpha 1,4-galactosyltransferase (P blood group) | Q9NPC4 |
| C1861172 | Venous Thromboembolism | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C1861172 | Venous Thromboembolism | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C1861172 | Venous Thromboembolism | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1861172 | Venous Thromboembolism | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C1861172 | Venous Thromboembolism | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1861172 | Venous Thromboembolism | PC | 5091 | pyruvate carboxylase | P11498 |
| C1861172 | Venous Thromboembolism | CALR | 811 | calreticulin | P27797 |
| C1861172 | Venous Thromboembolism | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C1861172 | Venous Thromboembolism | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C1861172 | Venous Thromboembolism | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C1861172 | Venous Thromboembolism | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C1861172 | Venous Thromboembolism | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C1861172 | Venous Thromboembolism | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
