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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 |
|---|---|---|---|---|---|
| C0265221 | Walker-Warburg congenital muscular dystrophy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C3665596 | Warts | FCN3 | 8547 | ficolin 3 | O75636 |
| C3665596 | Warts | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1135993 | Wasting Disease, Chronic | PRNP | 5621 | prion protein | P04156 |
| C1135993 | Wasting Disease, Chronic | PRNP | 5621 | prion protein | F7VJQ1 |
| C0265210 | Weaver syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0080333 | Weber-Cockayne Syndrome | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0043102 | Weil Disease | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C2750787 | Weill-Marchesani-Like Syndrome | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C0751396 | Well Differentiated Oligodendroglioma | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C0751396 | Well Differentiated Oligodendroglioma | HPSE | 10855 | heparanase | Q9Y251 |
| C0751396 | Well Differentiated Oligodendroglioma | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0751396 | Well Differentiated Oligodendroglioma | ENO2 | 2026 | enolase 2 | P09104 |
| C0751396 | Well Differentiated Oligodendroglioma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0751396 | Well Differentiated Oligodendroglioma | CSPG4 | 1464 | chondroitin sulfate proteoglycan 4 | Q6UVK1 |
| C0751396 | Well Differentiated Oligodendroglioma | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C0751396 | Well Differentiated Oligodendroglioma | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0751396 | Well Differentiated Oligodendroglioma | LGALS3 | 3958 | galectin 3 | P17931 |
| C0751396 | Well Differentiated Oligodendroglioma | LGALS1 | 3956 | galectin 1 | P09382 |
| C0751396 | Well Differentiated Oligodendroglioma | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
