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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 | 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 |
| C1837218 | Cleft palate, isolated | TIGAR | 57103 | TP53 induced glycolysis regulatory phosphatase | Q9NQ88 |
| C1837218 | Cleft palate, isolated | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C1837218 | Cleft palate, isolated | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C1837218 | Cleft palate, isolated | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C1837218 | Cleft palate, isolated | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C1837218 | Cleft palate, isolated | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C1837218 | Cleft palate, isolated | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C1837218 | Cleft palate, isolated | SRGN | 5552 | serglycin | P10124 |
| C1837218 | Cleft palate, isolated | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C1837218 | Cleft palate, isolated | CAT | 847 | catalase | P04040 |
| C1837218 | Cleft palate, isolated | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C1837218 | Cleft palate, isolated | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C1837218 | Cleft palate, isolated | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C0008924 | Cleft upper lip | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0008924 | Cleft upper lip | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0008924 | Cleft upper lip | FKTN | 2218 | fukutin | O75072 |
| C0008924 | Cleft upper lip | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0008924 | Cleft upper lip | FKRP | 79147 | fukutin related protein | Q9H9S5 |
