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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 |
|---|---|---|---|---|---|
| C0008312 | Primary biliary cirrhosis | DGKQ | 1609 | diacylglycerol kinase theta | P52824 |
| C0008312 | Primary biliary cirrhosis | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C0008312 | Primary biliary cirrhosis | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0008312 | Primary biliary cirrhosis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0008312 | Primary biliary cirrhosis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0008312 | Primary biliary cirrhosis | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| 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 |
| C0008309 | Bile duct adenoma | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0008297 | Choanal Atresia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0008297 | Choanal Atresia | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0008297 | Choanal Atresia | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0008297 | Choanal Atresia | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
| C0008297 | Choanal Atresia | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0008297 | Choanal Atresia | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0008272 | Asiderotic anemia | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0008055 | Chikungunya Fever | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0008055 | Chikungunya Fever | MPG | 4350 | N-methylpurine DNA glycosylase | P29372 |
| C0008055 | Chikungunya Fever | SIGLEC9 | 27180 | sialic acid binding Ig like lectin 9 | Q9Y336 |
| C0008055 | Chikungunya Fever | CD209 | 30835 | CD209 molecule | Q9NNX6 |
| C0008055 | Chikungunya Fever | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0008055 | Chikungunya Fever | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
