Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.780 GeneticVariation UNIPROT Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria. 19177531

2009
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.780 GeneticVariation UNIPROT The results of this study suggest that unique HMGCL gene mutations exist in Taiwanese HL deficiency patients. 19036343

2009
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.780 GeneticVariation UNIPROT C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity. 17459752

2007
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.780 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
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.780 GeneticVariation UNIPROT 3-hydroxy-3-methylglutaric aciduria (3HMG, McKusick: 246450) is an autosomal recessive branched chain organic aciduria caused by deficiency of the enzyme 3-Hydroxy-3-Methylglutaryl CoA lyase (HL, HMGCL, EC 4.1.3.4). 17173698

2006
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.780 GeneticVariation UNIPROT Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase. 12746442

2003
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.780 GeneticVariation UNIPROT Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. 11129331

2000
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.780 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
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.780 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
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.780 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