Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1120
Gene Symbol: CHKB
CHKB
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GeneticVariation UNIPROT Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn error of metabolism with 21 cases reported worldwide. 26006750

2016
Entrez Id: 1120
Gene Symbol: CHKB
CHKB
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GeneticVariation UNIPROT Novel CHKB mutation expands the megaconial muscular dystrophy phenotype. 25187204

2015
Entrez Id: 1120
Gene Symbol: CHKB
CHKB
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GeneticVariation UNIPROT Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients. 26067811

2015
Entrez Id: 1120
Gene Symbol: CHKB
CHKB
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GeneticVariation UNIPROT Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, but never in patients with an additional combined deficiency of complexes I, III and IV and mitochondrial DNA (mtDNA) depletion. 24997086

2014
Entrez Id: 1120
Gene Symbol: CHKB
CHKB
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GeneticVariation UNIPROT Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene. 22782513

2012
Entrez Id: 1120
Gene Symbol: CHKB
CHKB
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GeneticVariation UNIPROT A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. 21665002

2011