Preferred Label : Low density lipoprotein cholesterol level quantitative trait locus 6;
Symbol : LDLCQ6;
CISMeF acronym : LDLCQ6;
Type : Phenotype, molecular basis known;
Inheritance : Autosomal dominant;
Molecular basis : Susceptibility conferred by mutation in the sortilin gene (SORT1, 602458.0001);
Laboratory abnormalities : Variable plasma LDL-C levels; Very low-density lipoprotein (VLDL) particle levels;
Prefixed ID : #613589;
Origin ID : 613589;
UMLS CUI : C3150834;
Automatic exact mappings (from CISMeF team)
Genes related to phenotype
Semantic type(s)