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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 | 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 |
| C0008350 | Cholelithiasis | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
| C0008350 | Cholelithiasis | BPGM | 669 | bisphosphoglycerate mutase | P07738 |
| C0008350 | Cholelithiasis | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0008350 | Cholelithiasis | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0008350 | Cholelithiasis | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0008350 | Cholelithiasis | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C0008350 | Cholelithiasis | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
