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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 |
|---|---|---|---|---|---|
| C0220748 | Cartilage-hair hypoplasia | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0007361 | Cat-Scratch Disease | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0007361 | Cat-Scratch Disease | CALR | 811 | calreticulin | P27797 |
| C0007361 | Cat-Scratch Disease | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C2931868 | Catalase deficiency | CAT | 847 | catalase | P04040 |
| C2931868 | Catalase deficiency | TALDO1 | 6888 | transaldolase 1 | P37837 |
| C0007384 | Cataplexy | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0007384 | Cataplexy | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0007384 | Cataplexy | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0086543 | Cataract | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0086543 | Cataract | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0086543 | Cataract | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0086543 | Cataract | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0086543 | Cataract | FKTN | 2218 | fukutin | O75072 |
| C0086543 | Cataract | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0086543 | Cataract | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C0086543 | Cataract | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0086543 | Cataract | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0086543 | Cataract | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0086543 | Cataract | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0086543 | Cataract | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0086543 | Cataract | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C0086543 | Cataract | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0086543 | Cataract | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0086543 | Cataract | CHST1 | 8534 | carbohydrate sulfotransferase 1 | O43916 |
