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 |
---|---|---|---|---|---|
C0267725 | Paraesophageal hernia | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
C0009404 | Colorectal Neoplasms | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
C2711227 | Steatohepatitis | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
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 |
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 |
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Last updated: August 19, 2024