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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 |
|---|---|---|---|---|---|
| C0410179 | Ullrich congenital muscular dystrophy 1 | CSPG4 | 1464 | chondroitin sulfate proteoglycan 4 | Q6UVK1 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | FKTN | 2218 | fukutin | O75072 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | CD109 | 135228 | CD109 molecule | Q6YHK3 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0410173 | Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0409974 | Lupus Erythematosus | CHST12 | 55501 | carbohydrate sulfotransferase 12 | Q9NRB3 |
| C0409974 | Lupus Erythematosus | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0409974 | Lupus Erythematosus | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0409974 | Lupus Erythematosus | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0409974 | Lupus Erythematosus | LGALS9 | 3965 | galectin 9 | O00182 |
| C0409974 | Lupus Erythematosus | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0409974 | Lupus Erythematosus | PC | 5091 | pyruvate carboxylase | P11498 |
| C0409974 | Lupus Erythematosus | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
