Source: CLINGEN

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 Biomarker CLINGEN Our findings suggest that the clinical course of HMGCLD cannot be predicted accurately from HMGCL genotype. 28583327

2017
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.780 Biomarker CLINGEN A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern. 23861731

2013
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.780 Biomarker CLINGEN 3-Hydroxy-3-methylglutaric aciduria is a rare human autosomal recessive disorder caused by deficiency of 3-hydroxy-3-methylglutaryl CoA lyase (HL). 20532825

2010
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.780 Biomarker CLINGEN 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 Biomarker CLINGEN 3-Hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient mice. 9817922

1998
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.780 Biomarker CLINGEN 3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients. 8617516

1996
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.780 Biomarker CLINGEN 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency. 8440722

1993
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.780 Biomarker CLINGEN 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients. 3128690

1988