×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
GeneticVariation
disease
UNIPROT
Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.
12647205
2003
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
Biomarker
disease
CLINGEN
Genetic basis of mitochondrial HMG-CoA synthase deficiency.
11479731
2001
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
Biomarker
disease
CLINGEN
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients.
11228257
2001
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
GeneticVariation
disease
CLINVAR
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.
25511235
2015
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
GeneticVariation
disease
CLINVAR
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.
23751782
2013
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
Biomarker
disease
CLINGEN
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.
23751782
2013
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
Biomarker
disease
CLINGEN
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.
25511235
2015
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
GeneticVariation
disease
UNIPROT
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients.
11228257
2001
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
Biomarker
disease
BEFREE
The created databases include ACAD8 (isobutyryl-CoA dehydrogenase deficiency (IBD)), ACADSB (short-chain acyl-CoA dehydrogenase (SCAD) deficiency), AUH (3-methylglutaconic aciduria (3-MGCA)), DHCR7 (Smith-Lemli-Opitz syndrome), HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency ), HSD17B10 (17-beta-hydroxysteroid dehydrogenase X deficiency), FKBP14 (Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDSKMH) and ROGDI (Kohlschütter-Tönz syndrome).
25111118
2014
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
Biomarker
disease
GENOMICS_ENGLAND
Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase.
9337379
1997
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
GermlineCausalMutation
disease
ORPHANET
Genetic basis of mitochondrial HMG-CoA synthase deficiency.
11479731
2001
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
GeneticVariation
disease
CLINVAR
The diagnosis of mitochondrial HMG-CoA synthase deficiency.
12072887
2002
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
Biomarker
disease
CLINGEN
Human HMGCS2 regulates mitochondrial fatty acid oxidation and FGF21 expression in HepG2 cell line.
21502324
2011
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
Biomarker
disease
CLINGEN
Human mitochondrial HMG CoA synthase: liver cDNA and partial genomic cloning, chromosome mapping to 1p12-p13, and possible role in vertebrate evolution.
7851882
1994
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
GeneticVariation
disease
CLINVAR
Genetic basis of mitochondrial HMG-CoA synthase deficiency.
11479731
2001
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
GeneticVariation
disease
CLINVAR
Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design.
20346956
2010
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
GermlineCausalMutation
disease
ORPHANET
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.
23751782
2013
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
Biomarker
disease
CLINGEN
Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.
12647205
2003
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
Biomarker
disease
CTD_human
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
CausalMutation
disease
CLINVAR
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
GeneticVariation
disease
UNIPROT
Genetic basis of mitochondrial HMG-CoA synthase deficiency.
11479731
2001
×
Entrez Id:
3158
Gene Symbol:
HMGCS2
HMGCS2
0.710
Biomarker
disease
CLINGEN
The diagnosis of mitochondrial HMG-CoA synthase deficiency.
12072887
2002
×
Entrez Id:
549
Gene Symbol:
AUH
AUH
0.010
Biomarker
disease
BEFREE
The created databases include ACAD8 (isobutyryl-CoA dehydrogenase deficiency (IBD)), ACADSB (short-chain acyl-CoA dehydrogenase (SCAD) deficiency), AUH (3-methylglutaconic aciduria (3-MGCA)), DHCR7 (Smith-Lemli-Opitz syndrome), HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency ), HSD17B10 (17-beta-hydroxysteroid dehydrogenase X deficiency), FKBP14 (Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDSKMH) and ROGDI (Kohlschütter-Tönz syndrome).
25111118
2014