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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 |
|---|---|---|---|---|---|
| C0699743 | Congenital muscular dystrophy (disorder) | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0699743 | Congenital muscular dystrophy (disorder) | CHKA | 1119 | choline kinase alpha | P35790 |
| C0699743 | Congenital muscular dystrophy (disorder) | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C1802395 | Congenital muscular hypertrophy-cerebral syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0151491 | Congenital musculoskeletal anomalies | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1850792 | Congenital myasthenic syndrome ib | AGRN | 375790 | agrin | O00468 |
| C0270960 | Congenital myopathy (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0270960 | Congenital myopathy (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0270960 | Congenital myopathy (disorder) | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0270960 | Congenital myopathy (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0270960 | Congenital myopathy (disorder) | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0270960 | Congenital myopathy (disorder) | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0270960 | Congenital myopathy (disorder) | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0270960 | Congenital myopathy (disorder) | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0270960 | Congenital myopathy (disorder) | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0009363 | Congenital ocular coloboma (disorder) | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0009363 | Congenital ocular coloboma (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0009363 | Congenital ocular coloboma (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0009363 | Congenital ocular coloboma (disorder) | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0009363 | Congenital ocular coloboma (disorder) | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0009363 | Congenital ocular coloboma (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0009363 | Congenital ocular coloboma (disorder) | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0009363 | Congenital ocular coloboma (disorder) | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0009363 | Congenital ocular coloboma (disorder) | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0009363 | Congenital ocular coloboma (disorder) | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
