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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 |
|---|---|---|---|---|---|
| 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 |
| C0014518 | Toxic Epidermal Necrolysis | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0014518 | Toxic Epidermal Necrolysis | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0014518 | Toxic Epidermal Necrolysis | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C4551893 | Toxemia of pregnancy | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C4551903 | Total anomalous pulmonary venous return | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C1836672 | Total Hypotrichosis, Mari type | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C1836672 | Total Hypotrichosis, Mari type | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1321489 | Torre-Muir syndrome | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C1321489 | Torre-Muir syndrome | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C0877046 | Tooth Infection | LGALS3 | 3958 | galectin 3 | P17931 |
| 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 |
| C0558355 | Tonsillar Carcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0558355 | Tonsillar Carcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0558355 | Tonsillar Carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0558355 | Tonsillar Carcinoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| 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 |
| C0270844 | Tonic Seizures | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0270844 | Tonic Seizures | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0270844 | Tonic Seizures | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
