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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 |
|---|---|---|---|---|---|
| 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 |
| C0006826 | Malignant Neoplasms | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C1306459 | Primary malignant neoplasm | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0699790 | Colon Carcinoma | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0009402 | Colorectal Carcinoma | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0206701 | Cystadenocarcinoma, Serous | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0678222 | Breast Carcinoma | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0476089 | Endometrial Carcinoma | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
