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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 |
|---|---|---|---|---|---|
| C0019202 | Hepatolenticular Degeneration | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0019202 | Hepatolenticular Degeneration | CCDC115 | 84317 | coiled-coil domain containing 115 | Q96NT0 |
| C0019202 | Hepatolenticular Degeneration | CAT | 847 | catalase | P04040 |
| C0019202 | Hepatolenticular Degeneration | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0019202 | Hepatolenticular Degeneration | PRNP | 5621 | prion protein | F7VJQ1 |
| C0019196 | Hepatitis C | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0019196 | Hepatitis C | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0019196 | Hepatitis C | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C0019196 | Hepatitis C | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0019196 | Hepatitis C | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0019196 | Hepatitis C | GALNT8 | 26290 | polypeptide N-acetylgalactosaminyltransferase 8 | Q9NY28 |
| C0019196 | Hepatitis C | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0019196 | Hepatitis C | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0019196 | Hepatitis C | ALG10 | 84920 | ALG10 alpha-1,2-glucosyltransferase | Q5BKT4 |
| C0019196 | Hepatitis C | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0019196 | Hepatitis C | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C0019196 | Hepatitis C | GUSB | 2990 | glucuronidase beta | P08236 |
| C0019196 | Hepatitis C | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0019196 | Hepatitis C | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0019196 | Hepatitis C | HPSE | 10855 | heparanase | Q9Y251 |
| C0019196 | Hepatitis C | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0019196 | Hepatitis C | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0019196 | Hepatitis C | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0019196 | Hepatitis C | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0019196 | Hepatitis C | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
