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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 |
|---|---|---|---|---|---|
| C0027126 | Myotonic Dystrophy | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0027126 | Myotonic Dystrophy | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0027126 | Myotonic Dystrophy | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0027126 | Myotonic Dystrophy | PRNP | 5621 | prion protein | P04156 |
| C0027126 | Myotonic Dystrophy | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0027126 | Myotonic Dystrophy | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0027126 | Myotonic Dystrophy | SLC35G1 | 159371 | solute carrier family 35 member G1 | Q2M3R5 |
| C0027126 | Myotonic Dystrophy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0027126 | Myotonic Dystrophy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0027126 | Myotonic Dystrophy | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C2875316 | Myotubular (centronuclear) myopathy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C2875316 | Myotubular (centronuclear) myopathy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C2875316 | Myotubular (centronuclear) myopathy | FKTN | 2218 | fukutin | O75072 |
| C2875316 | Myotubular (centronuclear) myopathy | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C2875316 | Myotubular (centronuclear) myopathy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C2875316 | Myotubular (centronuclear) myopathy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C2875316 | Myotubular (centronuclear) myopathy | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C2875316 | Myotubular (centronuclear) myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0545074 | Myxoid/Round Cell Liposarcoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0545074 | Myxoid/Round Cell Liposarcoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0545074 | Myxoid/Round Cell Liposarcoma | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0545074 | Myxoid/Round Cell Liposarcoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0545074 | Myxoid/Round Cell Liposarcoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0268193 | NADH cytochrome B5 reductase deficiency | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0268193 | NADH cytochrome B5 reductase deficiency | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
