Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs755786597
rs755786597
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism. 25591832

2015
dbSNP: rs755786597
rs755786597
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 26163321

2015
dbSNP: rs755786597
rs755786597
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 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
dbSNP: rs755786597
rs755786597
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. 25251209

2014
dbSNP: rs755786597
rs755786597
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. 24299452

2013
dbSNP: rs755786597
rs755786597
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway. 21104317

2012
dbSNP: rs755786597
rs755786597
HIBCH
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. 17160907

2007