Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		0.710 Biomarker 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
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		0.710 Biomarker CLINGEN New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations. 23751782

2013
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		0.710 Biomarker CLINGEN Human HMGCS2 regulates mitochondrial fatty acid oxidation and FGF21 expression in HepG2 cell line. 21502324

2011
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		0.710 Biomarker CLINGEN Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations. 12647205

2003
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		0.710 Biomarker CLINGEN The diagnosis of mitochondrial HMG-CoA synthase deficiency. 12072887

2002
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		0.710 Biomarker CLINGEN Genetic basis of mitochondrial HMG-CoA synthase deficiency. 11479731

2001
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		0.710 Biomarker 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
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		0.710 Biomarker 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