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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 | 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 |
| C1518693 | Clear cell adenocarcinoma of ovary | NEU3 | 10825 | neuraminidase 3 | Q9UQ49 |
| C1518693 | Clear cell adenocarcinoma of ovary | ANXA4 | 307 | annexin A4 | P09525 |
| C1518693 | Clear cell adenocarcinoma of ovary | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0206651 | Clear Cell Sarcoma of Soft Tissue | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0206651 | Clear Cell Sarcoma of Soft Tissue | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0431121 | Clear Cell Meningioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1333067 | Clear Cell Hepatocellular Carcinoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0008909 | Claustrophobia | CAT | 847 | catalase | P04040 |
| C0751434 | Classical phenylketonuria | CAT | 847 | catalase | P04040 |
| C0751434 | Classical phenylketonuria | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0751434 | Classical phenylketonuria | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0268151 | Classical galactosemia | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C0268151 | Classical galactosemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0268151 | Classical galactosemia | LGALS1 | 3956 | galectin 1 | P09382 |
| C0268151 | Classical galactosemia | GALM | 130589 | galactose mutarotase | Q96C23 |
| C0268151 | Classical galactosemia | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0268151 | Classical galactosemia | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0268151 | Classical galactosemia | GALE | 2582 | UDP-galactose-4-epimerase | Q14376 |
| C0268151 | Classical galactosemia | UGP2 | 7360 | UDP-glucose pyrophosphorylase 2 | Q16851 |
