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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 |
| C0398623 | Thrombophilia | HPSE | 10855 | heparanase | Q9Y251 |
| C0006118 | Brain Neoplasms | HPSE | 10855 | heparanase | Q9Y251 |
| C0006826 | Malignant Neoplasms | HPSE | 10855 | heparanase | Q9Y251 |
| C0027651 | Neoplasms | HPSE | 10855 | heparanase | Q9Y251 |
| C2239176 | Liver carcinoma | HPSE | 10855 | heparanase | Q9Y251 |
| C0007134 | Renal Cell Carcinoma | HPSE | 10855 | heparanase | Q9Y251 |
| C3875321 | Inflammatory dermatosis | HPSE | 10855 | heparanase | Q9Y251 |
| C1704272 | Benign Prostatic Hyperplasia | HPSE | 10855 | heparanase | Q9Y251 |
| C1456781 | Benign melanocytic nevus | HPSE | 10855 | heparanase | Q9Y251 |
| C1306459 | Primary malignant neoplasm | HPSE | 10855 | heparanase | Q9Y251 |
| C1956346 | Coronary Artery Disease | HPSE | 10855 | heparanase | Q9Y251 |
| C0699791 | Stomach Carcinoma | HPSE | 10855 | heparanase | Q9Y251 |
| C0005684 | Malignant neoplasm of urinary bladder | HPSE | 10855 | heparanase | Q9Y251 |
| C0038454 | Cerebrovascular accident | HPSE | 10855 | heparanase | Q9Y251 |
| C0577631 | Carotid Atherosclerosis | HPSE | 10855 | heparanase | Q9Y251 |
| C0678222 | Breast Carcinoma | HPSE | 10855 | heparanase | Q9Y251 |
| C0011311 | Dengue Fever | HPSE | 10855 | heparanase | Q9Y251 |
