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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 |
|---|---|---|---|---|---|
| C1843116 | Bile acid synthesis defect, congenital, 1 | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C1856127 | Bile acid synthesis defect, congenital, 2 | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C1858328 | Bile acid synthesis defect, congenital, 4 | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0008309 | Bile duct adenoma | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0740277 | Bile duct carcinoma | MGAT5 | 4249 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase | Q09328 |
| C0740277 | Bile duct carcinoma | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0740277 | Bile duct carcinoma | ALDOA | 226 | aldolase, fructose-bisphosphate A | P04075 |
| C0740277 | Bile duct carcinoma | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0740277 | Bile duct carcinoma | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0740277 | Bile duct carcinoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0740277 | Bile duct carcinoma | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0740277 | Bile duct carcinoma | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
| C0740277 | Bile duct carcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0740277 | Bile duct carcinoma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0740277 | Bile duct carcinoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0740277 | Bile duct carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0740277 | Bile duct carcinoma | MSLN | 10232 | mesothelin | Q13421 |
| C0740277 | Bile duct carcinoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0740277 | Bile duct carcinoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0740277 | Bile duct carcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0005411 | Biliary Atresia | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0005411 | Biliary Atresia | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0005411 | Biliary Atresia | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0005411 | Biliary Atresia | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0005411 | Biliary Atresia | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
