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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 |
|---|---|---|---|---|---|
| C1266184 | Atypical Teratoid Rhabdoid Tumor | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C1266184 | Atypical Teratoid Rhabdoid Tumor | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1266184 | Atypical Teratoid Rhabdoid Tumor | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1266184 | Atypical Teratoid Rhabdoid Tumor | CNTN2 | 6900 | contactin 2 | Q02246 |
| C1266194 | Lymphocyte Rich Classical Hodgkin Lymphoma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C1266194 | Lymphocyte Rich Classical Hodgkin Lymphoma | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C1268935 | Congenital Thrombotic Thrombocytopenic Purpura | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1269683 | Major Depressive Disorder | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1269683 | Major Depressive Disorder | MGAT4B | 11282 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B | Q9UQ53 |
| C1269683 | Major Depressive Disorder | ST6GALNAC2 | 10610 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 | Q9UJ37 |
| C1269683 | Major Depressive Disorder | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C1269683 | Major Depressive Disorder | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1269683 | Major Depressive Disorder | CHST9 | 83539 | carbohydrate sulfotransferase 9 | Q7L1S5 |
| C1269683 | Major Depressive Disorder | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C1269683 | Major Depressive Disorder | NDST3 | 9348 | N-deacetylase and N-sulfotransferase 3 | O95803 |
| C1269683 | Major Depressive Disorder | GALC | 2581 | galactosylceramidase | P54803 |
| C1269683 | Major Depressive Disorder | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C1269683 | Major Depressive Disorder | ARSA | 410 | arylsulfatase A | P15289 |
| C1269683 | Major Depressive Disorder | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C1269683 | Major Depressive Disorder | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C1269683 | Major Depressive Disorder | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C1269683 | Major Depressive Disorder | HPSE | 10855 | heparanase | Q9Y251 |
| C1269683 | Major Depressive Disorder | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C1269683 | Major Depressive Disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1269683 | Major Depressive Disorder | CS | 1431 | citrate synthase | O75390 |
