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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 |
|---|---|---|---|---|---|
| C1956257 | Pulmonary Stenosis | FKTN | 2218 | fukutin | O75072 |
| C1956257 | Pulmonary Stenosis | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C1956257 | Pulmonary Stenosis | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C1956257 | Pulmonary Stenosis | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1956257 | Pulmonary Stenosis | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C1956257 | Pulmonary Stenosis | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1956257 | Pulmonary Stenosis | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C1956257 | Pulmonary Stenosis | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C1956257 | Pulmonary Stenosis | ARSD | 414 | arylsulfatase D | P51689 |
| C1956261 | Cerebral Venous Angioma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1956346 | Coronary Artery Disease | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C1956346 | Coronary Artery Disease | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C1956346 | Coronary Artery Disease | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C1956346 | Coronary Artery Disease | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C1956346 | Coronary Artery Disease | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1956346 | Coronary Artery Disease | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C1956346 | Coronary Artery Disease | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C1956346 | Coronary Artery Disease | GALNT2 | 2590 | polypeptide N-acetylgalactosaminyltransferase 2 | Q10471 |
| C1956346 | Coronary Artery Disease | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1956346 | Coronary Artery Disease | NDST4 | 64579 | N-deacetylase and N-sulfotransferase 4 | Q9H3R1 |
| C1956346 | Coronary Artery Disease | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C1956346 | Coronary Artery Disease | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C1956346 | Coronary Artery Disease | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C1956346 | Coronary Artery Disease | GALNT4 | 8693 | polypeptide N-acetylgalactosaminyltransferase 4 | Q8N4A0 |
| C1956346 | Coronary Artery Disease | ST6GALNAC5 | 81849 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 | Q9BVH7 |
