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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 |
|---|---|---|---|---|---|
| C0013336 | Dwarfism | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0013336 | Dwarfism | GCK | 2645 | glucokinase | P35557 |
| C0013336 | Dwarfism | GK | 2710 | glycerol kinase | P32189 |
| C0013336 | Dwarfism | GPC3 | 2719 | glypican 3 | P51654 |
| C0013336 | Dwarfism | GPD1 | 2819 | glycerol-3-phosphate dehydrogenase 1 | P21695 |
| C0013336 | Dwarfism | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0013336 | Dwarfism | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0013336 | Dwarfism | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0013336 | Dwarfism | OGDH | 4967 | oxoglutarate dehydrogenase | Q02218 |
| C0013336 | Dwarfism | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0013336 | Dwarfism | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0013336 | Dwarfism | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0013336 | Dwarfism | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0013336 | Dwarfism | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0013336 | Dwarfism | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0013336 | Dwarfism | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0013336 | Dwarfism | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0013336 | Dwarfism | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0013336 | Dwarfism | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0013336 | Dwarfism | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0013336 | Dwarfism | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0013336 | Dwarfism | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0013336 | Dwarfism | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0013336 | Dwarfism | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0013336 | Dwarfism | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
