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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 |
|---|---|---|---|---|---|
| C0008340 | Choledochal Cyst | CD14 | 929 | CD14 molecule | P08571 |
| 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 |
| C0008350 | Cholelithiasis | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0008350 | Cholelithiasis | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0008350 | Cholelithiasis | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0008350 | Cholelithiasis | GUSB | 2990 | glucuronidase beta | P08236 |
| C0008350 | Cholelithiasis | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0008350 | Cholelithiasis | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0008350 | Cholelithiasis | ALDOA | 226 | aldolase, fructose-bisphosphate A | P04075 |
| C0008350 | Cholelithiasis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0008350 | Cholelithiasis | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0008350 | Cholelithiasis | HK1 | 3098 | hexokinase 1 | P19367 |
| C0008350 | Cholelithiasis | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0008350 | Cholelithiasis | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0008350 | Cholelithiasis | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0008350 | Cholelithiasis | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0008350 | Cholelithiasis | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0008350 | Cholelithiasis | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0008350 | Cholelithiasis | UGT1A5 | 54579 | UDP glucuronosyltransferase family 1 member A5 | P35504 |
| C0008350 | Cholelithiasis | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0008350 | Cholelithiasis | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0008350 | Cholelithiasis | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
