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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name ▲ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C2717836 | Steroid Sulfatase Deficiency Disease | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C2717836 | Steroid Sulfatase Deficiency Disease | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
C2717836 | Steroid Sulfatase Deficiency Disease | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C2717836 | Steroid Sulfatase Deficiency Disease | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
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 |
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 |
C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C2020284 | Stickler syndrome, type 1 | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
C2020284 | Stickler syndrome, type 1 | TECTA | 7007 | tectorin alpha | O75443 |
C2020284 | Stickler syndrome, type 1 | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
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Last updated: August 19, 2024