Gene: HMGCL ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		0.110 Biomarker phenotype 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 		0.110 Biomarker phenotype HPO