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: rs137852638
rs137852638
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease:
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		T 0.800 GeneticVariation CLINVAR Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations. 25511235 2015
dbSNP: rs137852638
rs137852638
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease:
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		T 0.800 GeneticVariation CLINVAR New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations. 23751782 2013
dbSNP: rs137852638
rs137852638
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease:
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		T 0.800 GeneticVariation CLINVAR Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design. 20346956 2010
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: rs137852638
rs137852638
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: rs137852639
rs137852639
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: rs137852640
rs137852640
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: rs28937320
rs28937320
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: rs137852638
rs137852638
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease:
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		T 0.800 GeneticVariation CLINVAR The diagnosis of mitochondrial HMG-CoA synthase deficiency. 12072887 2002
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: rs137852638
rs137852638
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: rs137852638
rs137852638
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease:
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		T 0.800 GeneticVariation CLINVAR Genetic basis of mitochondrial HMG-CoA synthase deficiency. 11479731 2001
dbSNP: rs137852638
rs137852638
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: rs137852639
rs137852639
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: rs137852639
rs137852639
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease:
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		T 0.800 GeneticVariation CLINVAR Genetic basis of mitochondrial HMG-CoA synthase deficiency. 11479731 2001
dbSNP: rs137852639
rs137852639
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: rs137852640
rs137852640
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: rs137852640
rs137852640
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: rs28937320
rs28937320
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: rs28937320
rs28937320
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 		G 0.800 CausalMutation CLINVAR
dbSNP: rs137852638
rs137852638
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease:
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		T 0.800 CausalMutation CLINVAR
dbSNP: rs137852639
rs137852639
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease:
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		T 0.800 CausalMutation CLINVAR
dbSNP: rs137852640
rs137852640
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
CUI: C2751532
Disease:
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		C 0.800 CausalMutation CLINVAR