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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 |
|---|---|---|---|---|---|
| C0079294 | Epidermolysis Bullosa Dystrophica | STS | 412 | steroid sulfatase | P08842 |
| C0079293 | Epidermolysis Bullosa Acquisita | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0079293 | Epidermolysis Bullosa Acquisita | SELL | 6402 | selectin L | P14151 |
| C0079293 | Epidermolysis Bullosa Acquisita | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0079293 | Epidermolysis Bullosa Acquisita | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0079293 | Epidermolysis Bullosa Acquisita | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0014527 | Epidermolysis Bullosa | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0014527 | Epidermolysis Bullosa | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0014527 | Epidermolysis Bullosa | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0014527 | Epidermolysis Bullosa | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0014527 | Epidermolysis Bullosa | SDC2 | 6383 | syndecan 2 | P34741 |
| C0014522 | Epidermodysplasia Verruciformis | STT3A | 3703 | STT3 oligosaccharyltransferase complex catalytic subunit A | P46977 |
| C0014522 | Epidermodysplasia Verruciformis | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0014522 | Epidermodysplasia Verruciformis | STS | 412 | steroid sulfatase | P08842 |
| C0014522 | Epidermodysplasia Verruciformis | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0014522 | Epidermodysplasia Verruciformis | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C0014522 | Epidermodysplasia Verruciformis | SDCBP2 | 27111 | syndecan binding protein 2 | Q9H190 |
| C0014522 | Epidermodysplasia Verruciformis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0014522 | Epidermodysplasia Verruciformis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0014493 | Epidemic keratoconjunctivitis | PLD3 | 23646 | phospholipase D family member 3 | Q8IV08 |
| C0014474 | Ependymoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0014474 | Ependymoma | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0014474 | Ependymoma | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0014474 | Ependymoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0014474 | Ependymoma | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
