Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0342738
Disease: Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		0.710 GeneticVariation CLINVAR Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 26163321

2015
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0342738
Disease: Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		0.710 GeneticVariation CLINVAR Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. 17160907

2007
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease. 26026795

2015
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 26163321

2015
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism. 25591832

2015
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism. 25591832

2015
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease. 26026795

2015
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 26163321

2015
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. 25251209

2014
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. 25251209

2014
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. 24299452

2013
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. 24299452

2013
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway. 21104317

2012
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway. 21104317

2012
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. 17160907

2007
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. 17160907

2007
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C4283745
Disease: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency 		0.100 GeneticVariation CLINVAR