Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 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 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 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 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 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 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 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 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 The diagnosis of mitochondrial HMG-CoA synthase deficiency. 12072887 2002
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 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 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 Genetic basis of mitochondrial HMG-CoA synthase deficiency. 11479731 2001
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 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 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 Biomarker disease GENOMICS_ENGLAND
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: 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