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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 |
|---|---|---|---|---|---|
| C0035258 | Restless Legs Syndrome | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0699743 | Congenital muscular dystrophy (disorder) | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0025958 | Microcephaly | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C1865233 | Muscular Dystrophy, Congenital, Megaconial Type | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0027404 | Narcolepsy | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C1861922 | CAMPOMELIC DYSPLASIA | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0751362 | Narcolepsy-Cataplexy Syndrome | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0206157 | Myopathies, Nemaline | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0270962 | Multi-core congenital myopathy | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0242379 | Malignant neoplasm of lung | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0241005 | Creatine phosphokinase serum increased | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0520947 | Clumsiness - motor delay | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0684249 | Carcinoma of lung | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0026850 | Muscular Dystrophy | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0268237 | Cytochrome-c Oxidase Deficiency | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0007193 | Cardiomyopathy, Dilated | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0917799 | Hypersomnia | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C2875316 | Myotubular (centronuclear) myopathy | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0751951 | Central Core Myopathy (disorder) | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0015469 | Facial paralysis | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0546264 | Congenital Fiber Type Disproportion | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0025521 | Inborn Errors of Metabolism | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | CHODL | 140578 | chondrolectin | Q9H9P2 |
| C0007131 | Non-Small Cell Lung Carcinoma | CHODL | 140578 | chondrolectin | Q9H9P2 |
