HIBCH, 3-hydroxyisobutyryl-CoA hydrolase, 26275

N. diseases: 60; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918329
rs121918329
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0342738
Disease:
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		0.800 GeneticVariation UNIPROT Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. 17160907 2007
dbSNP: rs121918329
rs121918329
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0342738
Disease:
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		C 0.800 GeneticVariation CLINVAR
dbSNP: rs291447
rs291447
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs121918329
rs121918329
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 26163321 2015
dbSNP: rs121918329
rs121918329
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		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: rs143746450
rs143746450
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0342738
Disease:
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		T 0.700 GeneticVariation CLINVAR Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 26163321 2015
dbSNP: rs1553505302
rs1553505302
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		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: rs1553505302
rs1553505302
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 26163321 2015
dbSNP: rs755786597
rs755786597
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 26163321 2015
dbSNP: rs755786597
rs755786597
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
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
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
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: rs121918329
rs121918329
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. 25251209 2014
dbSNP: rs1553505302
rs1553505302
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. 25251209 2014
dbSNP: rs755786597
rs755786597
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. 25251209 2014
dbSNP: rs121918329
rs121918329
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
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: rs121918329
rs121918329
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway. 21104317 2012
dbSNP: rs1553505302
rs1553505302
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway. 21104317 2012
dbSNP: rs755786597
rs755786597
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway. 21104317 2012
dbSNP: rs121918329
rs121918329
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. 17160907 2007
dbSNP: rs143746450
rs143746450
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0342738
Disease:
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		T 0.700 GeneticVariation CLINVAR Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. 17160907 2007
dbSNP: rs1553505302
rs1553505302
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. 17160907 2007