Source: INFERRED

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 GeneticVariation 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
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		0.710 GeneticVariation CLINVAR 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 GeneticVariation 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
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		0.710 GeneticVariation CLINVAR 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 GeneticVariation CLINVAR 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 CausalMutation CLINVAR