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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 |
|---|---|---|---|---|---|
| C0349788 | Arrhythmogenic Right Ventricular Dysplasia | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0349788 | Arrhythmogenic Right Ventricular Dysplasia | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0349788 | Arrhythmogenic Right Ventricular Dysplasia | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0349788 | Arrhythmogenic Right Ventricular Dysplasia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0349788 | Arrhythmogenic Right Ventricular Dysplasia | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0349788 | Arrhythmogenic Right Ventricular Dysplasia | FASN | 2194 | fatty acid synthase | P49327 |
| C0349788 | Arrhythmogenic Right Ventricular Dysplasia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0349788 | Arrhythmogenic Right Ventricular Dysplasia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0362030 | Verrucous epidermal nevus | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0362046 | Prediabetes syndrome | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0362046 | Prediabetes syndrome | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0362046 | Prediabetes syndrome | AMY2A | 279 | amylase alpha 2A | P04746 |
| C0362046 | Prediabetes syndrome | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C0362046 | Prediabetes syndrome | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0362046 | Prediabetes syndrome | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0362046 | Prediabetes syndrome | LGALS3 | 3958 | galectin 3 | P17931 |
| C0362046 | Prediabetes syndrome | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0362046 | Prediabetes syndrome | SRGN | 5552 | serglycin | P10124 |
| C0362046 | Prediabetes syndrome | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0362046 | Prediabetes syndrome | RTN4R | 65078 | reticulon 4 receptor | Q9BZR6 |
| C0362046 | Prediabetes syndrome | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C0362046 | Prediabetes syndrome | UMOD | 7369 | uromodulin | P07911 |
| C0362046 | Prediabetes syndrome | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0362046 | Prediabetes syndrome | CAT | 847 | catalase | P04040 |
| C0362046 | Prediabetes syndrome | GCK | 2645 | glucokinase | P35557 |
