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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 ▲ |
|---|---|---|---|---|---|
| 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 |
| C0026764 | Multiple Myeloma | ST3GAL6 | 10402 | ST3 beta-galactoside alpha-2,3-sialyltransferase 6 | Q9Y274 |
| C0038356 | Stomach Neoplasms | ST3GAL6 | 10402 | ST3 beta-galactoside alpha-2,3-sialyltransferase 6 | Q9Y274 |
| C2239176 | Liver carcinoma | ST3GAL6 | 10402 | ST3 beta-galactoside alpha-2,3-sialyltransferase 6 | Q9Y274 |
| C0009402 | Colorectal Carcinoma | ST3GAL6 | 10402 | ST3 beta-galactoside alpha-2,3-sialyltransferase 6 | Q9Y274 |
| C0007097 | Carcinoma | ST3GAL6 | 10402 | ST3 beta-galactoside alpha-2,3-sialyltransferase 6 | Q9Y274 |
| C0027651 | Neoplasms | ST3GAL6 | 10402 | ST3 beta-galactoside alpha-2,3-sialyltransferase 6 | Q9Y274 |
| C0007847 | Malignant tumor of cervix | HS3ST2 | 9956 | heparan sulfate-glucosamine 3-sulfotransferase 2 | Q9Y278 |
| C0027651 | Neoplasms | HS3ST2 | 9956 | heparan sulfate-glucosamine 3-sulfotransferase 2 | Q9Y278 |
| C0006826 | Malignant Neoplasms | HS3ST2 | 9956 | heparan sulfate-glucosamine 3-sulfotransferase 2 | Q9Y278 |
| C0007137 | Squamous cell carcinoma | HS3ST2 | 9956 | heparan sulfate-glucosamine 3-sulfotransferase 2 | Q9Y278 |
| C0302592 | Cervix carcinoma | HS3ST2 | 9956 | heparan sulfate-glucosamine 3-sulfotransferase 2 | Q9Y278 |
| C4721610 | Carcinoma, Ovarian Epithelial | HS3ST2 | 9956 | heparan sulfate-glucosamine 3-sulfotransferase 2 | Q9Y278 |
| C1334177 | Infiltrating Cervical Carcinoma | HS3ST2 | 9956 | heparan sulfate-glucosamine 3-sulfotransferase 2 | Q9Y278 |
| C1306459 | Primary malignant neoplasm | HS3ST2 | 9956 | heparan sulfate-glucosamine 3-sulfotransferase 2 | Q9Y278 |
| C0242379 | Malignant neoplasm of lung | HS3ST2 | 9956 | heparan sulfate-glucosamine 3-sulfotransferase 2 | Q9Y278 |
| C0006142 | Malignant neoplasm of breast | HS3ST2 | 9956 | heparan sulfate-glucosamine 3-sulfotransferase 2 | Q9Y278 |
| C0007131 | Non-Small Cell Lung Carcinoma | HS3ST2 | 9956 | heparan sulfate-glucosamine 3-sulfotransferase 2 | Q9Y278 |
