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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0037773 | Spastic Paraplegia, Hereditary | FAR1 | 84188 | fatty acyl-CoA reductase 1 | Q8WVX9 |
| C0025958 | Microcephaly | FAR1 | 84188 | fatty acyl-CoA reductase 1 | Q8WVX9 |
| C0282529 | Chondrodysplasia Punctata, Rhizomelic | FAR1 | 84188 | fatty acyl-CoA reductase 1 | Q8WVX9 |
| C0013595 | Eczema | FAR1 | 84188 | fatty acyl-CoA reductase 1 | Q8WVX9 |
| C0027651 | Neoplasms | ANXA9 | 8416 | annexin A9 | O76027 |
| C0009402 | Colorectal Carcinoma | ANXA9 | 8416 | annexin A9 | O76027 |
| C0025202 | melanoma | ANXA9 | 8416 | annexin A9 | O76027 |
| C0007137 | Squamous cell carcinoma | ANXA9 | 8416 | annexin A9 | O76027 |
| C0011849 | Diabetes Mellitus | TKTL2 | 84076 | transketolase like 2 | Q9H0I9 |
