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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 |
|---|---|---|---|---|---|
| C0004698 | Balkan Nephropathy | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0004698 | Balkan Nephropathy | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0004698 | Balkan Nephropathy | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0004698 | Balkan Nephropathy | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0004698 | Balkan Nephropathy | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0004763 | Barrett Esophagus | B3GAT2 | 135152 | beta-1,3-glucuronyltransferase 2 | Q9NPZ5 |
| C0004763 | Barrett Esophagus | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0004763 | Barrett Esophagus | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0004763 | Barrett Esophagus | CHST11 | 50515 | carbohydrate sulfotransferase 11 | Q9NPF2 |
| C0004763 | Barrett Esophagus | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0004763 | Barrett Esophagus | HPSE | 10855 | heparanase | Q9Y251 |
| C0004763 | Barrett Esophagus | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0004763 | Barrett Esophagus | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0004763 | Barrett Esophagus | MPG | 4350 | N-methylpurine DNA glycosylase | P29372 |
| C0004763 | Barrett Esophagus | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0004763 | Barrett Esophagus | AKR1B10 | 57016 | aldo-keto reductase family 1 member B10 | O60218 |
| C0004763 | Barrett Esophagus | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0004763 | Barrett Esophagus | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0004763 | Barrett Esophagus | FH | 2271 | fumarate hydratase | P07954 |
| C0004763 | Barrett Esophagus | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C0004763 | Barrett Esophagus | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0004763 | Barrett Esophagus | GPX7 | 2882 | glutathione peroxidase 7 | Q96SL4 |
| C0004763 | Barrett Esophagus | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0004763 | Barrett Esophagus | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0004763 | Barrett Esophagus | ICAM2 | 3384 | intercellular adhesion molecule 2 | P13598 |
