Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.010 GeneticVariation BEFREE 3-Hydroxy-3-methylglutaryl CoA lyase deficiency (HL deficiency) is a rare autosomal recessive mitochondrial disease characterized by a deficiency in the enzyme 3-Hydroxy-3-methylglutaryl CoA lyase (HMGCL). 19036343

2009