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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 |
|---|---|---|---|---|---|
| C0011981 | Diaphragmatic Eventration | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0376338 | Diagnosis, Psychiatric | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0376338 | Diagnosis, Psychiatric | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0376338 | Diagnosis, Psychiatric | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0730285 | Diabetic macular edema | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0730285 | Diabetic macular edema | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C0730285 | Diabetic macular edema | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0730285 | Diabetic macular edema | HK1 | 3098 | hexokinase 1 | P19367 |
| C0730285 | Diabetic macular edema | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0730285 | Diabetic macular edema | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0730285 | Diabetic macular edema | LGALS1 | 3956 | galectin 1 | P09382 |
| C0730285 | Diabetic macular edema | CD14 | 929 | CD14 molecule | P08571 |
| C0730285 | Diabetic macular edema | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0011884 | Diabetic Retinopathy | HS6ST3 | 266722 | heparan sulfate 6-O-sulfotransferase 3 | Q8IZP7 |
| C0011884 | Diabetic Retinopathy | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0011884 | Diabetic Retinopathy | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C0011884 | Diabetic Retinopathy | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0011884 | Diabetic Retinopathy | B4GALT2 | 8704 | beta-1,4-galactosyltransferase 2 | O60909 |
| C0011884 | Diabetic Retinopathy | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0011884 | Diabetic Retinopathy | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0011884 | Diabetic Retinopathy | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0011884 | Diabetic Retinopathy | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0011884 | Diabetic Retinopathy | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0011884 | Diabetic Retinopathy | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0011884 | Diabetic Retinopathy | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
