Gene: HIBCH ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918329
rs121918329
HIBCH
C 0.700 GeneticVariation CLINVAR Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism. 25591832

2015
dbSNP: rs121918329
rs121918329
HIBCH
C 0.700 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
dbSNP: rs121918329
rs121918329
HIBCH
C 0.700 GeneticVariation CLINVAR Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 26163321

2015
dbSNP: rs1553505302
rs1553505302
HIBCH
G 0.700 GeneticVariation CLINVAR Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 26163321

2015
dbSNP: rs1553505302
rs1553505302
HIBCH
G 0.700 GeneticVariation CLINVAR Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism. 25591832

2015
dbSNP: rs1553505302
rs1553505302
HIBCH
G 0.700 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
dbSNP: rs755786597
rs755786597
HIBCH
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
A 0.700 CausalMutation CLINVAR Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 26163321

2015
dbSNP: rs755786597
rs755786597
HIBCH
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: rs121918329
rs121918329
HIBCH
C 0.700 GeneticVariation CLINVAR HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. 25251209

2014
dbSNP: rs1553505302
rs1553505302
HIBCH
G 0.700 GeneticVariation CLINVAR HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. 25251209

2014
dbSNP: rs755786597
rs755786597
HIBCH
A 0.700 CausalMutation CLINVAR HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. 25251209

2014
dbSNP: rs121918329
rs121918329
HIBCH
C 0.700 GeneticVariation CLINVAR HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. 24299452

2013
dbSNP: rs1553505302
rs1553505302
HIBCH
G 0.700 GeneticVariation 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
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: rs121918329
rs121918329
HIBCH
C 0.700 GeneticVariation CLINVAR Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway. 21104317

2012
dbSNP: rs1553505302
rs1553505302
HIBCH
G 0.700 GeneticVariation CLINVAR Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway. 21104317

2012
dbSNP: rs755786597
rs755786597
HIBCH
A 0.700 CausalMutation CLINVAR Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway. 21104317

2012
dbSNP: rs121918329
rs121918329
HIBCH
C 0.700 GeneticVariation CLINVAR Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. 17160907

2007
dbSNP: rs1553505302
rs1553505302
HIBCH
G 0.700 GeneticVariation CLINVAR Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. 17160907

2007
dbSNP: rs755786597
rs755786597
HIBCH
A 0.700 CausalMutation CLINVAR Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. 17160907

2007