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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 |
|---|---|---|---|---|---|
| C0002875 | Cooley's anemia | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0002875 | Cooley's anemia | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0002875 | Cooley's anemia | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0002875 | Cooley's anemia | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0010034 | Corneal Diseases | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1864738 | Corneal Dystrophy, Congenital Stromal | DCN | 1634 | decorin | P07585 |
| C0339277 | Corneal Dystrophy, Juvenile Epithelial of Meesmann | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0339277 | Corneal Dystrophy, Juvenile Epithelial of Meesmann | CAT | 847 | catalase | P04040 |
| C0085109 | Corneal Neovascularization | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0085109 | Corneal Neovascularization | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0085109 | Corneal Neovascularization | DCN | 1634 | decorin | P07585 |
| C0085109 | Corneal Neovascularization | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0085109 | Corneal Neovascularization | LGALS3 | 3958 | galectin 3 | P17931 |
| C0085109 | Corneal Neovascularization | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0085109 | Corneal Neovascularization | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0010038 | Corneal Opacity | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0010038 | Corneal Opacity | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0010038 | Corneal Opacity | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0010038 | Corneal Opacity | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0010038 | Corneal Opacity | FKTN | 2218 | fukutin | O75072 |
| C0010038 | Corneal Opacity | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0010038 | Corneal Opacity | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0010038 | Corneal Opacity | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0010038 | Corneal Opacity | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0010038 | Corneal Opacity | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
