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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 |
|---|---|---|---|---|---|
| C0026848 | Myopathy | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0026848 | Myopathy | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0026848 | Myopathy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0026848 | Myopathy | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0026848 | Myopathy | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0026848 | Myopathy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0026848 | Myopathy | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0026848 | Myopathy | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0026848 | Myopathy | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0026848 | Myopathy | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0026848 | Myopathy | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0026848 | Myopathy | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C0026848 | Myopathy | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0026848 | Myopathy | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0026848 | Myopathy | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0026848 | Myopathy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0026848 | Myopathy | GYG1 | 2992 | glycogenin 1 | P46976 |
| C0026848 | Myopathy | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C0026848 | Myopathy | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0026848 | Myopathy | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0026848 | Myopathy | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0026848 | Myopathy | CD38 | 952 | CD38 molecule | P28907 |
| C0026848 | Myopathy | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0026848 | Myopathy | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
| C0026848 | Myopathy | CD109 | 135228 | CD109 molecule | Q6YHK3 |
