Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852636
rs137852636
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease:
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		0.800 GeneticVariation UNIPROT Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations. 12647205 2003
dbSNP: rs137852636
rs137852636
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease:
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		0.800 GeneticVariation UNIPROT Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients. 11228257 2001
dbSNP: rs137852636
rs137852636
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease:
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		0.800 GeneticVariation UNIPROT Genetic basis of mitochondrial HMG-CoA synthase deficiency. 11479731 2001
dbSNP: rs137852636
rs137852636
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease:
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		G 0.800 CausalMutation CLINVAR