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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 |
|---|---|---|---|---|---|
| C0020071 | Hereditary Sensory Autonomic Neuropathy, Type 1 | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0020071 | Hereditary Sensory Autonomic Neuropathy, Type 1 | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0020071 | Hereditary Sensory Autonomic Neuropathy, Type 1 | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0020071 | Hereditary Sensory Autonomic Neuropathy, Type 1 | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C0019911 | Hookworm Infections | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0019880 | Homocystinuria | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0019880 | Homocystinuria | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0019880 | Homocystinuria | PEMT | 10400 | phosphatidylethanolamine N-methyltransferase | Q9UBM1 |
| C0019880 | Homocystinuria | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0019829 | Hodgkin Disease | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0019829 | Hodgkin Disease | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0019829 | Hodgkin Disease | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0019829 | Hodgkin Disease | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0019829 | Hodgkin Disease | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0019829 | Hodgkin Disease | HPSE | 10855 | heparanase | Q9Y251 |
| C0019829 | Hodgkin Disease | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0019829 | Hodgkin Disease | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0019829 | Hodgkin Disease | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0019829 | Hodgkin Disease | LGALS9 | 3965 | galectin 9 | O00182 |
| C0019829 | Hodgkin Disease | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0019829 | Hodgkin Disease | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C0019829 | Hodgkin Disease | PC | 5091 | pyruvate carboxylase | P11498 |
| C0019829 | Hodgkin Disease | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0019829 | Hodgkin Disease | SDC1 | 6382 | syndecan 1 | P18827 |
| C0019829 | Hodgkin Disease | CALR | 811 | calreticulin | P27797 |
