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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 |
|---|---|---|---|---|---|
| C1145628 | Autonomic nervous system disorders | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1145628 | Autonomic nervous system disorders | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1145628 | Autonomic nervous system disorders | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1142166 | Brugada Syndrome (disorder) | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C1142166 | Brugada Syndrome (disorder) | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
| C1142166 | Brugada Syndrome (disorder) | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C1142166 | Brugada Syndrome (disorder) | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C1142166 | Brugada Syndrome (disorder) | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C1141890 | Congenital long QT syndrome | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C1140680 | Malignant neoplasm of ovary | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C1140680 | Malignant neoplasm of ovary | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C1140680 | Malignant neoplasm of ovary | GBGT1 | 26301 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) | Q8N5D6 |
| C1140680 | Malignant neoplasm of ovary | B4GALNT3 | 283358 | beta-1,4-N-acetyl-galactosaminyltransferase 3 | Q6L9W6 |
| C1140680 | Malignant neoplasm of ovary | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1140680 | Malignant neoplasm of ovary | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
| C1140680 | Malignant neoplasm of ovary | CHST11 | 50515 | carbohydrate sulfotransferase 11 | Q9NPF2 |
| C1140680 | Malignant neoplasm of ovary | MGAT3 | 4248 | beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase | Q09327 |
| C1140680 | Malignant neoplasm of ovary | B4GALNT4 | 338707 | beta-1,4-N-acetyl-galactosaminyltransferase 4 | Q76KP1 |
| C1140680 | Malignant neoplasm of ovary | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C1140680 | Malignant neoplasm of ovary | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C1140680 | Malignant neoplasm of ovary | ST3GAL1 | 6482 | ST3 beta-galactoside alpha-2,3-sialyltransferase 1 | Q11201 |
| C1140680 | Malignant neoplasm of ovary | ST6GALNAC1 | 55808 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 | Q9NSC7 |
| C1140680 | Malignant neoplasm of ovary | GALNT14 | 79623 | polypeptide N-acetylgalactosaminyltransferase 14 | Q96FL9 |
| C1140680 | Malignant neoplasm of ovary | GCNT3 | 9245 | glucosaminyl (N-acetyl) transferase 3, mucin type | O95395 |
| C1140680 | Malignant neoplasm of ovary | GLB1 | 2720 | galactosidase beta 1 | P16278 |
