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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 |
|---|---|---|---|---|---|
| C0038325 | Stevens-Johnson Syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0038325 | Stevens-Johnson Syndrome | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0038325 | Stevens-Johnson Syndrome | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0038325 | Stevens-Johnson Syndrome | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0038325 | Stevens-Johnson Syndrome | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0038325 | Stevens-Johnson Syndrome | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0038325 | Stevens-Johnson Syndrome | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0038325 | Stevens-Johnson Syndrome | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0403396 | Steroid-sensitive nephrotic syndrome | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0403396 | Steroid-sensitive nephrotic syndrome | HPSE | 10855 | heparanase | Q9Y251 |
| C0403396 | Steroid-sensitive nephrotic syndrome | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0403396 | Steroid-sensitive nephrotic syndrome | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C0403396 | Steroid-sensitive nephrotic syndrome | GLO1 | 2739 | glyoxalase I | Q04760 |
| C0403396 | Steroid-sensitive nephrotic syndrome | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C2717836 | Steroid Sulfatase Deficiency Disease | HPSE | 10855 | heparanase | Q9Y251 |
| C2717836 | Steroid Sulfatase Deficiency Disease | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C2717836 | Steroid Sulfatase Deficiency Disease | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C2717836 | Steroid Sulfatase Deficiency Disease | FBP2 | 8789 | fructose-bisphosphatase 2 | O00757 |
| C2717836 | Steroid Sulfatase Deficiency Disease | CSPG4 | 1464 | chondroitin sulfate proteoglycan 4 | Q6UVK1 |
| C2717836 | Steroid Sulfatase Deficiency Disease | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C2717836 | Steroid Sulfatase Deficiency Disease | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C2717836 | Steroid Sulfatase Deficiency Disease | ANXA5 | 308 | annexin A5 | P08758 |
| C2717836 | Steroid Sulfatase Deficiency Disease | LGALS1 | 3956 | galectin 1 | P09382 |
| C2717836 | Steroid Sulfatase Deficiency Disease | STS | 412 | steroid sulfatase | P08842 |
| C2717836 | Steroid Sulfatase Deficiency Disease | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
