Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.110 Biomarker BEFREE Mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL) deficiency is an autosomal recessive disorder affecting the leucine catabolic pathway and ketone body synthesis, and is clinically characterized by metabolic crises with hypoketotic hypoglycemia, metabolic acidosis and hyperammonemia. 25872961

2015
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.110 Biomarker HPO