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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 |
|---|---|---|---|---|---|
| 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 |
| C0854723 | Retinal Dystrophies | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0010038 | Corneal Opacity | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C3714756 | Intellectual Disability | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0266544 | Microcornea | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0035305 | Retinal Detachment | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0149925 | Small cell carcinoma of lung | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0027092 | Myopia | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0520947 | Clumsiness - motor delay | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0017601 | Glaucoma | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0086543 | Cataract | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0338502 | Hypoplasia of the optic nerve | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0026010 | Microphthalmos | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
