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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 |
|---|---|---|---|---|---|
| C0349566 | Squamous cell carcinoma of tongue | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0349566 | Squamous cell carcinoma of tongue | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0349566 | Squamous cell carcinoma of tongue | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0345946 | Squamous cell carcinoma of trachea | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0280856 | Squamous cell carcinoma of vulva | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0280856 | Squamous cell carcinoma of vulva | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C4520821 | Stage 0 Breast Cancer AJCC v6 and v7 | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C4520822 | Stage 0 Colon Cancer AJCC v6 and v7 | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0038159 | Staphylococcal Food Poisoning | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0038165 | Staphylococcal Scalded Skin Syndrome | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0155360 | Staphyloma posticum | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C1838644 | Stargardt disease 3 | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C1838644 | Stargardt disease 3 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C1863534 | Stargardt disease 4 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0271093 | Stargardt's disease | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0271093 | Stargardt's disease | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0271093 | Stargardt's disease | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0271093 | Stargardt's disease | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0271093 | Stargardt's disease | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0271093 | Stargardt's disease | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0038218 | Status Asthmaticus | CD14 | 929 | CD14 molecule | P08571 |
| C0038220 | Status Epilepticus | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0038220 | Status Epilepticus | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0038220 | Status Epilepticus | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0038220 | Status Epilepticus | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
