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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 |
|---|---|---|---|---|---|
| C0349530 | Early gastric cancer | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0349530 | Early gastric cancer | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C3714731 | Early childhood caries | PSAP | 5660 | prosaposin | P07602 |
| C3714731 | Early childhood caries | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C3714731 | Early childhood caries | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C3714731 | Early childhood caries | ALOX15 | 246 | arachidonate 15-lipoxygenase | P16050 |
| C0013447 | Ear Diseases | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0013447 | Ear Diseases | CD14 | 929 | CD14 molecule | P08571 |
| C0271073 | Eales disease | LGALS1 | 3956 | galectin 1 | P09382 |
| C1851413 | EXOSTOSES, MULTIPLE, TYPE II | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C1851413 | EXOSTOSES, MULTIPLE, TYPE II | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C4479620 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C1847593 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C4539843 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C4479313 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C4479208 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 | MDH2 | 4191 | malate dehydrogenase 2 | P40926 |
| C3550904 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36 | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C4014430 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C1839333 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C1839333 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C1839333 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C3554316 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C3150988 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C3463992 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C4015619 | EPILEPSY, PROGRESSIVE MYOCLONIC, 8 | CERS1 | 10715 | ceramide synthase 1 | P27544 |
