RECQL4 Gene Mutation

Preferred Label : RECQL4 Gene Mutation;

NCIt synonyms : RecQ Helicase-Like 4 Gene Mutation; RECQ4 Gene Mutation; RecQ Like Helicase 4 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the RECQL4 gene.;

Details

Origin ID

C53977;

UMLS CUI

C1709812;

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
- Rothmund-Thomson Syndrome Type 2 [NCIt concept]
is_not_molecular_abnormality_of_disease
- Rothmund-Thomson Syndrome Type 1 [NCIt concept]
molecular_abnormality_involves_gene
- DNA Repair Gene [NCIt concept]
- RECQL4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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