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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 |
|---|---|---|---|---|---|
| C0008325 | Cholecystitis | HK1 | 3098 | hexokinase 1 | P19367 |
| C0008325 | Cholecystitis | BPGM | 669 | bisphosphoglycerate mutase | P07738 |
| C0008325 | Cholecystitis | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0008325 | Cholecystitis | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0008325 | Cholecystitis | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0008325 | Cholecystitis | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0008313 | Cholangitis, Sclerosing | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0008313 | Cholangitis, Sclerosing | GAL3ST2 | 64090 | galactose-3-O-sulfotransferase 2 | Q9H3Q3 |
| C0008313 | Cholangitis, Sclerosing | MANBA | 4126 | mannosidase beta | O00462 |
| C0008313 | Cholangitis, Sclerosing | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0008313 | Cholangitis, Sclerosing | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0008313 | Cholangitis, Sclerosing | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0008313 | Cholangitis, Sclerosing | STS | 412 | steroid sulfatase | P08842 |
| C0008313 | Cholangitis, Sclerosing | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0008313 | Cholangitis, Sclerosing | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C0008313 | Cholangitis, Sclerosing | INPP5A | 3632 | inositol polyphosphate-5-phosphatase A | Q14642 |
| C0008311 | Cholangitis | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0008311 | Cholangitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0008311 | Cholangitis | PLA2G2D | 26279 | phospholipase A2 group IID | Q9UNK4 |
| C0008311 | Cholangitis | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0008311 | Cholangitis | PLA2G10 | 8399 | phospholipase A2 group X | O15496 |
| C1516490 | Cholangiolocellular Carcinoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1516490 | Cholangiolocellular Carcinoma | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1516490 | Cholangiolocellular Carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0206698 | Cholangiocarcinoma | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
