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: rs755786597
rs755786597
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. 17160907 2007
dbSNP: rs1553499757
rs1553499757
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0342738
Disease:
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553501873
rs1553501873
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C4283745
Disease:
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553506164
rs1553506164
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0342738
Disease:
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1296383102
rs1296383102
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0013421
Disease:
Dystonia 		0.010 GeneticVariation BEFREE Here, we report a female Chinese patient presenting with exercise-induced dystonia and bilateral symmetrical hyperintensities of the globus pallidus on brain MRI associated with novel HIBCH mutations (c.1027C>G;p. H343D and c.383T>A;p.V128D). 31679561 2019
dbSNP: rs1296383102
rs1296383102
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0393593
Disease:
Dystonia Disorders 		0.010 GeneticVariation BEFREE Here, we report a female Chinese patient presenting with exercise-induced dystonia and bilateral symmetrical hyperintensities of the globus pallidus on brain MRI associated with novel HIBCH mutations (c.1027C>G;p. H343D and c.383T>A;p.V128D). 31679561 2019
dbSNP: rs2562796
rs2562796
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE Using this combined analysis, we identified an interaction between rs2562796 and rs16832404 at 2p32.2 that was significantly associated with the risk of developing lung cancer (P LRM = 1.03×10(-13) in total 13 392 subjects). 24325914 2014
dbSNP: rs2562796
rs2562796
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C1306460
Disease:
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Using this combined analysis, we identified an interaction between rs2562796 and rs16832404 at 2p32.2 that was significantly associated with the risk of developing lung cancer (P LRM = 1.03×10(-13) in total 13 392 subjects). 24325914 2014
dbSNP: rs2562796
rs2562796
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0242379
Disease:
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Using this combined analysis, we identified an interaction between rs2562796 and rs16832404 at 2p32.2 that was significantly associated with the risk of developing lung cancer (P LRM = 1.03×10(-13) in total 13 392 subjects). 24325914 2014