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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 |
|---|---|---|---|---|---|
| C0035305 | Retinal Detachment | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0026010 | Microphthalmos | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C1531647 | Cerebral ventriculomegaly | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C4015184 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0699743 | Congenital muscular dystrophy (disorder) | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0026850 | Muscular Dystrophy | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0010964 | Dandy-Walker Syndrome | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0266551 | Congenital coloboma of iris | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0038379 | Strabismus | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0029124 | Optic Atrophy | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C3808964 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0878544 | Cardiomyopathies | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0009363 | Congenital ocular coloboma (disorder) | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0020256 | Congenital Hydrocephalus | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0266483 | Pachygyria | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0020255 | Hydrocephalus | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0344530 | Congenital keratoglobus | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0025958 | Microcephaly | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0036439 | Scoliosis, unspecified | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0010417 | Cryptorchidism | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0036572 | Seizures | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0241005 | Creatine phosphokinase serum increased | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
