COL7A1 Gene Mutation

Preferred Label : COL7A1 Gene Mutation;

NCIt synonyms : EBDCT Gene Mutation; EBR1 Gene Mutation; Collagen, Type VII, Alpha 1 Gene Mutation; Collagen Type VII Alpha 1 Chain Gene Mutation; EBD1 Gene Mutation; NDNC8 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the COL7A1 gene.;

NCI Metathesaurus CUI : CL970991;

Details

Origin ID

C162448;

UMLS CUI

C5206561;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
is_target
- Antisense Oligonucleotide QR-313 [NCIt concept]
molecular_abnormality_involves_gene
- COL7A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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