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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 |
|---|---|---|---|---|---|
| C0005283 | beta Thalassemia | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0005395 | Bile Duct Diseases | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0005396 | Bile Duct Neoplasms | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0005398 | Cholestasis, Extrahepatic | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0005398 | Cholestasis, Extrahepatic | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0005398 | Cholestasis, Extrahepatic | LGALS1 | 3956 | galectin 1 | P09382 |
| C0005398 | Cholestasis, Extrahepatic | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0005398 | Cholestasis, Extrahepatic | CYP8B1 | 1582 | cytochrome P450 family 8 subfamily B member 1 | Q9UNU6 |
| C0005398 | Cholestasis, Extrahepatic | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0005398 | Cholestasis, Extrahepatic | HMGCS2 | 3158 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | P54868 |
| C0005403 | Bile Reflux | 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 |
| C0005411 | Biliary Atresia | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C0005411 | Biliary Atresia | SELE | 6401 | selectin E | P16581 |
| C0005411 | Biliary Atresia | CBR4 | 84869 | carbonyl reductase 4 | Q8N4T8 |
| C0005411 | Biliary Atresia | CD14 | 929 | CD14 molecule | P08571 |
| C0005411 | Biliary Atresia | GPC1 | 2817 | glypican 1 | P35052 |
| C0005411 | Biliary Atresia | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0005411 | Biliary Atresia | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0005411 | Biliary Atresia | ENPP2 | 5168 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | Q13822 |
| C0005426 | Biliary Tract Neoplasm | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
