TTR Gene Mutation

Preferred Label : TTR Gene Mutation;

NCIt synonyms : Prealbumin, Thyroxine-Binding Gene Mutation; TBPA Gene Mutation; TTR Mutation; PALB Gene Mutation; Transthyretin Gene Mutation; ATTR Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the TTR gene.;

NCI Metathesaurus CUI : CL554899;

Details

Origin ID

C153524;

UMLS CUI

C4727319;

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]
is_molecular_abnormality_of_disease
- Hereditary Transthyretin Amyloid Cardiomyopathy [NCIt concept]
- Hereditary Transthyretin Amyloidosis with Polyneuropathy [NCIt concept]
molecular_abnormality_involves_gene
- TTR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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