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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 |
|---|---|---|---|---|---|
| C0086651 | Mucopolysaccharidosis, MPS-IV-A | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C0086651 | Mucopolysaccharidosis, MPS-IV-A | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0086651 | Mucopolysaccharidosis, MPS-IV-A | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0086651 | Mucopolysaccharidosis, MPS-IV-A | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0086651 | Mucopolysaccharidosis, MPS-IV-A | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0086651 | Mucopolysaccharidosis, MPS-IV-A | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0086651 | Mucopolysaccharidosis, MPS-IV-A | ARSB | 411 | arylsulfatase B | P15848 |
| C0086651 | Mucopolysaccharidosis, MPS-IV-A | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0086651 | Mucopolysaccharidosis, MPS-IV-A | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C1334815 | Multi-centric Castleman's Disease | CD38 | 952 | CD38 molecule | P28907 |
| C1334815 | Multi-centric Castleman's Disease | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C1334815 | Multi-centric Castleman's Disease | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1334815 | Multi-centric Castleman's Disease | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1334815 | Multi-centric Castleman's Disease | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1334815 | Multi-centric Castleman's Disease | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C1334815 | Multi-centric Castleman's Disease | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1334815 | Multi-centric Castleman's Disease | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0270962 | Multi-core congenital myopathy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0270962 | Multi-core congenital myopathy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0270962 | Multi-core congenital myopathy | FKTN | 2218 | fukutin | O75072 |
| C0270962 | Multi-core congenital myopathy | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0270962 | Multi-core congenital myopathy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0270962 | Multi-core congenital myopathy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0270962 | Multi-core congenital myopathy | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0011263 | Multi-infarct dementia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
