Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs765475941
rs765475941
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 GeneticVariation UNIPROT Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency. 19036343

2009
dbSNP: rs765475941
rs765475941
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 GeneticVariation UNIPROT Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria. 19177531

2009
dbSNP: rs765475941
rs765475941
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 GeneticVariation UNIPROT C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity. 17459752

2007
dbSNP: rs765475941
rs765475941
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 GeneticVariation UNIPROT A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase. 16601870

2006
dbSNP: rs765475941
rs765475941
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 GeneticVariation UNIPROT Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population. 17173698

2006
dbSNP: rs765475941
rs765475941
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 GeneticVariation UNIPROT Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase. 12746442

2003
dbSNP: rs765475941
rs765475941
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 GeneticVariation UNIPROT Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. 11129331

2000
dbSNP: rs765475941
rs765475941
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 GeneticVariation UNIPROT Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient. 9784232

1998
dbSNP: rs765475941
rs765475941
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 GeneticVariation UNIPROT HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q. 9463337

1998
dbSNP: rs765475941
rs765475941
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 GeneticVariation UNIPROT Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue. 8798725

1996