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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 |
|---|---|---|---|---|---|
| C0936248 | Chondroma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0936250 | Eczema Herpeticum | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0936250 | Eczema Herpeticum | CD14 | 929 | CD14 molecule | P08571 |
| C0936282 | Blastoma | ARSA | 410 | arylsulfatase A | P15289 |
| C0936282 | Blastoma | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0936282 | Blastoma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| 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 |
| C0947622 | Cholecystolithiasis | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0947622 | Cholecystolithiasis | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0947622 | Cholecystolithiasis | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0947622 | Cholecystolithiasis | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0947622 | Cholecystolithiasis | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0947622 | Cholecystolithiasis | UGT1A5 | 54579 | UDP glucuronosyltransferase family 1 member A5 | P35504 |
| C0947622 | Cholecystolithiasis | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C0947622 | Cholecystolithiasis | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
| C0947622 | Cholecystolithiasis | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0947622 | Cholecystolithiasis | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0947622 | Cholecystolithiasis | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0947622 | Cholecystolithiasis | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0947622 | Cholecystolithiasis | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
