Deleterious SEM1 Gene Mutation

Preferred Label : Deleterious SEM1 Gene Mutation;

NCIt synonyms : Deleterious C7orf76 Gene Mutation; Deleterious SHFM1 Gene Mutation; Deleterious Deleted In Split-Hand/Split-Foot 1 Gene Mutation; Deleterious DSS1 Gene Mutation; Deleterious SHFD1 Gene Mutation; Deleterious SEM1 Mutation; Deleterious ECD Gene Mutation; Deleterious SEM1 26S Proteasome Complex Subunit Gene Mutation; Deleterious Shfdg1 Gene Mutation; Deleterious SHSF1 Gene Mutation; Deleterious SHFM1 Mutation;

NCIt definition : A mutation in the SEM1 gene that is associated with an increased risk of disease.;

NCI Metathesaurus CUI : CL1406477;

Details

Origin ID

C172346;

UMLS CUI

C5419594;

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
- SEM1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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