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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 |
|---|---|---|---|---|---|
| C0558355 | Tonsillar Carcinoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0558355 | Tonsillar Carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0040425 | Tonsillitis | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0040425 | Tonsillitis | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0040425 | Tonsillitis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0040425 | Tonsillitis | FCN2 | 2220 | ficolin 2 | Q15485 |
| C0877046 | Tooth Infection | LGALS3 | 3958 | galectin 3 | P17931 |
| C1321489 | Torre-Muir syndrome | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C1321489 | Torre-Muir syndrome | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C1836672 | Total Hypotrichosis, Mari type | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C1836672 | Total Hypotrichosis, Mari type | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C4551903 | Total anomalous pulmonary venous return | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C4551893 | Toxemia of pregnancy | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| 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 |
