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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 |
|---|---|---|---|---|---|
| C0345893 | Juvenile polyposis syndrome | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0345893 | Juvenile polyposis syndrome | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0345893 | Juvenile polyposis syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0345893 | Juvenile polyposis syndrome | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C0345893 | Juvenile polyposis syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0345893 | Juvenile polyposis syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0345893 | Juvenile polyposis syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0345893 | Juvenile polyposis syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0345893 | Juvenile polyposis syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0345904 | Malignant neoplasm of liver | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0345904 | Malignant neoplasm of liver | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0345904 | Malignant neoplasm of liver | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C0345904 | Malignant neoplasm of liver | GALNT14 | 79623 | polypeptide N-acetylgalactosaminyltransferase 14 | Q96FL9 |
| C0345904 | Malignant neoplasm of liver | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0345904 | Malignant neoplasm of liver | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0345904 | Malignant neoplasm of liver | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0345904 | Malignant neoplasm of liver | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0345904 | Malignant neoplasm of liver | HPSE | 10855 | heparanase | Q9Y251 |
| C0345904 | Malignant neoplasm of liver | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0345904 | Malignant neoplasm of liver | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0345904 | Malignant neoplasm of liver | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0345904 | Malignant neoplasm of liver | CTBS | 1486 | chitobiase | Q01459 |
| C0345904 | Malignant neoplasm of liver | ENO1 | 2023 | enolase 1 | P06733 |
| C0345904 | Malignant neoplasm of liver | FBP1 | 2203 | fructose-bisphosphatase 1 | P09467 |
| C0345904 | Malignant neoplasm of liver | GPC2 | 221914 | glypican 2 | Q8N158 |
