CHKB, choline kinase beta, 1120

N. diseases: 48; N. variants: 19
Disease: Muscular Dystrophy, Congenital, Megaconial Type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 Biomarker disease GENOMICS_ENGLAND Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene. 30986505 2019
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GeneticVariation disease BEFREE The sum of our results in a preclinical model of disease suggest that replacement of the Chkb gene or upregulation of endogenous Chka could serve as potential lines of therapy for MDCMC patients. 31216357 2019
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GeneticVariation disease BEFREE 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
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GeneticVariation disease 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
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 Biomarker disease GENOMICS_ENGLAND Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB. 26782016 2016
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GeneticVariation disease UNIPROT Novel CHKB mutation expands the megaconial muscular dystrophy phenotype. 25187204 2015
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GeneticVariation disease UNIPROT Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients. 26067811 2015
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GeneticVariation disease 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
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GeneticVariation disease BEFREE 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
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GeneticVariation disease UNIPROT Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene. 22782513 2012
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GermlineCausalMutation disease ORPHANET Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene. 22782513 2012
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GeneticVariation disease CLINVAR A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. 21665002 2011
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GermlineCausalMutation disease ORPHANET A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. 21665002 2011
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 GeneticVariation disease UNIPROT A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. 21665002 2011
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 Biomarker disease MGD A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis. 16371353 2006
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 Biomarker disease GENOMICS_ENGLAND A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis. 16371353 2006
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 CausalMutation disease CLINVAR
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.930 Biomarker disease CTD_human