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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 |
|---|---|---|---|---|---|
| C0008350 | Cholelithiasis | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0008350 | Cholelithiasis | PLA2G10 | 8399 | phospholipase A2 group X | O15496 |
| C0008350 | Cholelithiasis | CAT | 847 | catalase | P04040 |
| C0008350 | Cholelithiasis | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0008350 | Cholelithiasis | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0008350 | Cholelithiasis | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0008350 | Cholelithiasis | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0008350 | Cholelithiasis | CYP8B1 | 1582 | cytochrome P450 family 8 subfamily B member 1 | Q9UNU6 |
| C0008350 | Cholelithiasis | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0008350 | Cholelithiasis | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0008350 | Cholelithiasis | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0008350 | Cholelithiasis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0008350 | Cholelithiasis | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0701818 | Choledocholithiasis | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0701818 | Choledocholithiasis | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0701818 | Choledocholithiasis | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0701818 | Choledocholithiasis | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0008340 | Choledochal Cyst | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0008340 | Choledochal Cyst | CD14 | 929 | CD14 molecule | P08571 |
| C0947622 | Cholecystolithiasis | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0947622 | Cholecystolithiasis | GUSB | 2990 | glucuronidase beta | P08236 |
| C0947622 | Cholecystolithiasis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0947622 | Cholecystolithiasis | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0947622 | Cholecystolithiasis | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0947622 | Cholecystolithiasis | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
