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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 |
|---|---|---|---|---|---|
| C0008925 | Cleft Palate | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0008925 | Cleft Palate | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0008925 | Cleft Palate | CAT | 847 | catalase | P04040 |
| C0008925 | Cleft Palate | SELENOI | 85465 | selenoprotein I | Q9C0D9 |
| C0008925 | Cleft Palate | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0008925 | Cleft Palate | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0008925 | Cleft Palate | GPC3 | 2719 | glypican 3 | P51654 |
| C0008925 | Cleft Palate | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0008925 | Cleft Palate | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0008925 | Cleft Palate | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0008925 | Cleft Palate | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0008925 | Cleft Palate | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0008925 | Cleft Palate | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0008925 | Cleft Palate | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0008925 | Cleft Palate | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C0008925 | Cleft Palate | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0008925 | Cleft Palate | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0008925 | Cleft Palate | MTMR3 | 8897 | myotubularin related protein 3 | Q13615 |
| C0008928 | Cleidocranial Dysplasia | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0008928 | Cleidocranial Dysplasia | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0009021 | Clonorchiasis | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0009021 | Clonorchiasis | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0009021 | Clonorchiasis | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0009021 | Clonorchiasis | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0009080 | Clubbed Fingers | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
