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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 |
|---|---|---|---|---|---|
| C0018802 | Congestive heart failure | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C1328479 | Pancreatic Endocrine Carcinoma | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C0342788 | Renal carnitine transport defect | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C0699885 | Carcinoma of bladder | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C0012813 | Diverticulitis | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C1541923 | Infective endocarditis | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C1306459 | Primary malignant neoplasm | CHPF2 | 54480 | chondroitin polymerizing factor 2 | Q9P2E5 |
| C0006826 | Malignant Neoplasms | CHPF2 | 54480 | chondroitin polymerizing factor 2 | Q9P2E5 |
| C0009402 | Colorectal Carcinoma | CHPF2 | 54480 | chondroitin polymerizing factor 2 | Q9P2E5 |
| C0017661 | IGA Glomerulonephritis | CHPF | 79586 | chondroitin polymerizing factor | Q8IZ52 |
| C0011570 | Mental Depression | CHPF | 79586 | chondroitin polymerizing factor | Q8IZ52 |
| C0017638 | Glioma | CHPF | 79586 | chondroitin polymerizing factor | Q8IZ52 |
| C1306459 | Primary malignant neoplasm | CHPF | 79586 | chondroitin polymerizing factor | Q8IZ52 |
| C0011581 | Depressive disorder | CHPF | 79586 | chondroitin polymerizing factor | Q8IZ52 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | CHODL | 140578 | chondrolectin | Q9H9P2 |
| C0007131 | Non-Small Cell Lung Carcinoma | CHODL | 140578 | chondrolectin | Q9H9P2 |
| C0684249 | Carcinoma of lung | CHODL | 140578 | chondrolectin | Q9H9P2 |
| C2267227 | Bulimia Nervosa | CHODL | 140578 | chondrolectin | Q9H9P2 |
| C0026847 | Spinal Muscular Atrophy | CHODL | 140578 | chondrolectin | Q9H9P2 |
| C0027651 | Neoplasms | CHODL | 140578 | chondrolectin | Q9H9P2 |
| 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 |
