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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 |
|---|---|---|---|---|---|
| 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 |
| C0035304 | Retinal Degeneration | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0456909 | Blindness | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0007112 | Adenocarcinoma of prostate | CCDC115 | 84317 | coiled-coil domain containing 115 | Q96NT0 |
| C0021364 | Male infertility | CCDC115 | 84317 | coiled-coil domain containing 115 | Q96NT0 |
| C0524851 | Neurodegenerative Disorders | CCDC115 | 84317 | coiled-coil domain containing 115 | Q96NT0 |
| C0025007 | Measles | CCDC115 | 84317 | coiled-coil domain containing 115 | Q96NT0 |
| C0027651 | Neoplasms | CCDC115 | 84317 | coiled-coil domain containing 115 | Q96NT0 |
| C0600139 | Prostate carcinoma | CCDC115 | 84317 | coiled-coil domain containing 115 | Q96NT0 |
| C0033578 | Prostatic Neoplasms | CCDC115 | 84317 | coiled-coil domain containing 115 | Q96NT0 |
| C0027819 | Neuroblastoma | CCDC115 | 84317 | coiled-coil domain containing 115 | Q96NT0 |
| C0019202 | Hepatolenticular Degeneration | CCDC115 | 84317 | coiled-coil domain containing 115 | Q96NT0 |
| C4225191 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo | CCDC115 | 84317 | coiled-coil domain containing 115 | Q96NT0 |
