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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 | 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 |
| C0013336 | Dwarfism | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0013336 | Dwarfism | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0013336 | Dwarfism | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0013336 | Dwarfism | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0013336 | Dwarfism | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0013336 | Dwarfism | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0013336 | Dwarfism | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0013336 | Dwarfism | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
