Source: UNIPROT

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 UNIPROT 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 GeneticVariation 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
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		0.710 GeneticVariation UNIPROT Genetic basis of mitochondrial HMG-CoA synthase deficiency. 11479731

2001