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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 |
|---|---|---|---|---|---|
| C0524524 | Pseudoaphakia | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0524524 | Pseudoaphakia | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0524524 | Pseudoaphakia | ALDH3A1 | 218 | aldehyde dehydrogenase 3 family member A1 | P30838 |
| C0524620 | Metabolic Syndrome X | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C0524620 | Metabolic Syndrome X | GALNT2 | 2590 | polypeptide N-acetylgalactosaminyltransferase 2 | Q10471 |
| C0524620 | Metabolic Syndrome X | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0524620 | Metabolic Syndrome X | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C0524620 | Metabolic Syndrome X | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0524620 | Metabolic Syndrome X | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0524620 | Metabolic Syndrome X | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0524620 | Metabolic Syndrome X | ARSA | 410 | arylsulfatase A | P15289 |
| C0524620 | Metabolic Syndrome X | ARSB | 411 | arylsulfatase B | P15848 |
| C0524620 | Metabolic Syndrome X | OGA | 10724 | O-GlcNAcase | O60502 |
| C0524620 | Metabolic Syndrome X | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0524620 | Metabolic Syndrome X | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0524620 | Metabolic Syndrome X | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0524620 | Metabolic Syndrome X | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C0524620 | Metabolic Syndrome X | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0524620 | Metabolic Syndrome X | ALDOA | 226 | aldolase, fructose-bisphosphate A | P04075 |
| C0524620 | Metabolic Syndrome X | ENO2 | 2026 | enolase 2 | P09104 |
| C0524620 | Metabolic Syndrome X | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0524620 | Metabolic Syndrome X | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C0524620 | Metabolic Syndrome X | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0524620 | Metabolic Syndrome X | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0524620 | Metabolic Syndrome X | GYS1 | 2997 | glycogen synthase 1 | P13807 |
