Activating LRP6 Gene Mutation

Preferred Label : Activating LRP6 Gene Mutation;

NCIt synonyms : Activating LRP6 Mutation; Activating LDL Receptor Related Protein 6 Gene Mutation; Activating ADCAD2 Gene Mutation; Activating Low Density Lipoprotein Receptor-Related Protein 6 Gene Mutation; LRP6 Gain of Function Mutation; Activating LRP-6 Gene Mutation; LRP6 Activating Gene Mutation; Gain of Function LRP6 Mutation; Gain of Function LRP6 Gene Mutation; LRP6 Activating Mutation; LRP6 Gain of Function Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the LRP6 gene that that results in constitutive activation of both low-density lipoprotein receptor-related protein 6 and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL1661947;

Details

Origin ID

C179370;

UMLS CUI

C5555648;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- LRP6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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