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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 |
|---|---|---|---|---|---|
| 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 |
| C0014518 | Toxic Epidermal Necrolysis | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0014518 | Toxic Epidermal Necrolysis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0014518 | Toxic Epidermal Necrolysis | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0014518 | Toxic Epidermal Necrolysis | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0014518 | Toxic Epidermal Necrolysis | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0014518 | Toxic Epidermal Necrolysis | CD33 | 945 | CD33 molecule | P20138 |
| C0014518 | Toxic Epidermal Necrolysis | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0014518 | Toxic Epidermal Necrolysis | UPP1 | 7378 | uridine phosphorylase 1 | Q16831 |
| C0014518 | Toxic Epidermal Necrolysis | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0014518 | Toxic Epidermal Necrolysis | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0014518 | Toxic Epidermal Necrolysis | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0014518 | Toxic Epidermal Necrolysis | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
