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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 |
|---|---|---|---|---|---|
| C0544855 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C0545044 | Acrokeratoelastoidosis of Costa | SI | 6476 | sucrase-isomaltase | P14410 |
| C0545044 | Acrokeratoelastoidosis of Costa | MGAM | 8972 | maltase-glucoamylase | O43451 |
| 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 |
| C0546264 | Congenital Fiber Type Disproportion | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0546264 | Congenital Fiber Type Disproportion | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0546264 | Congenital Fiber Type Disproportion | FKTN | 2218 | fukutin | O75072 |
| C0546264 | Congenital Fiber Type Disproportion | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0546264 | Congenital Fiber Type Disproportion | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0546264 | Congenital Fiber Type Disproportion | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0546264 | Congenital Fiber Type Disproportion | CD38 | 952 | CD38 molecule | P28907 |
| C0546264 | Congenital Fiber Type Disproportion | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0546264 | Congenital Fiber Type Disproportion | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0546264 | Congenital Fiber Type Disproportion | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0546264 | Congenital Fiber Type Disproportion | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0546837 | Malignant neoplasm of esophagus | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0546837 | Malignant neoplasm of esophagus | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0546837 | Malignant neoplasm of esophagus | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
| C0546837 | Malignant neoplasm of esophagus | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0546837 | Malignant neoplasm of esophagus | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0546837 | Malignant neoplasm of esophagus | ARSA | 410 | arylsulfatase A | P15289 |
