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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 |
|---|---|---|---|---|---|
| C0948008 | Ischemic stroke | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0948008 | Ischemic stroke | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0948008 | Ischemic stroke | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C0948008 | Ischemic stroke | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0948008 | Ischemic stroke | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0948008 | Ischemic stroke | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C0948008 | Ischemic stroke | ACYP2 | 98 | acylphosphatase 2 | P14621 |
| C0948216 | Ovarian adenocarcinoma | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0948216 | Ovarian adenocarcinoma | NEU3 | 10825 | neuraminidase 3 | Q9UQ49 |
| C0948216 | Ovarian adenocarcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0948216 | Ovarian adenocarcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0948242 | Nuchal bleb, familial | LPL | 4023 | lipoprotein lipase | P06858 |
| C0948480 | Coronary Restenosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0948480 | Coronary Restenosis | CDH13 | 1012 | cadherin 13 | P55290 |
| C0948740 | Hypoplasia of the pituitary gland | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0948896 | Primary hypogonadism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0948896 | Primary hypogonadism | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0948896 | Primary hypogonadism | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0948896 | Primary hypogonadism | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0948896 | Primary hypogonadism | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0948896 | Primary hypogonadism | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0949116 | Congenital hypoplastic anemia | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0949116 | Congenital hypoplastic anemia | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0949272 | IIeocolitis | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0949506 | Porokeratosis of Mibelli | FDPS | 2224 | farnesyl diphosphate synthase | P14324 |
