Low density lipoprotein cholesterol level quantitative trait locus 6

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;

Détails

Origin ID

613589;

UMLS CUI

C3150834;

Automatic exact mappings (from CISMeF team)
- SORT1 wt Allele [NCIt concept]
Genes related to phenotype
- Sortilin [OMIM gene]
Semantic type(s)
- Finding [UMLS semantic type]

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