Gene - CISMeF

Preferred Label : Gene;

NCIt synonyms : Genes;

NCIt definition : A functional unit of heredity which occupies a specific position on a particular chromosome and serves as the template for a product that contributes to a phenotype or a biological function.;

Alternative definition : NCI-GLOSS: The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein.; BRIDG 5.3: A functional unit of heredity that occupies a specific position (locus) on a particular chromosome, is capable of reproducing itself exactly at each cell division, and directs the formation of a protein or other product. Comment Requested: In interest of re-using existing standards, should the above definition of Gene be replaced by the following from the NLM - The basic physical and functional unit of heredity. It is made up of DNA and act as instructions to make molecules called proteins. [Source: http://ghr.nlm.nih.gov/handbook/basics/gene] EXAMPLE(S): BRCA1 gene OTHER NAME(S): NOTE(S):;

NCIt note : The gene as a functional unit consists of a discrete segment of a giant DNA molecule containing the purine (adenine and guanine) and pyrimidine (cytosine and thymine) bases in the ordered and correct sequence that encodes a specific functional product (i.e., a protein or RNA molecule).;

Codes from synonyms : CDR0000045693;

Details

Origin ID

C16612;

UMLS CUI

C0017337;

Automatic exact mappings (from CISMeF team)
- AS gene [LOINC component]
- Discomfort [MedDRA Preferred Term]
- Discomfort (finding) [SNOMED CT concept]
- Discomfort NOS [MedDRA LLT]
- Embarrassment [MeSH Descriptor]
- Gene [LOINC component]
- Gene ID [EDAM data]
- Gene name [EDAM data]
- Gene order [EDAM data]
- Genes [LOINC component]
- Genes [UNESCO concept]
- Immune suppressor gene (substance) [SNOMED CT concept]
- Structural gene [FMA entity]
- WAS gene [LOINC component]
- Wasp actin nucleation promoting factor [OMIM gene]
- biomedical engineering [MeSH Descriptor]
- clinical engineering [MeSH concept]
- gene [Blood Transfusion thesaurus concept]
- gene [COVID-19 Thesaurus concept]
- gene order [MeSH Descriptor]
- genes, immediate-early [MeSH Descriptor]
- genes, sis [MeSH Descriptor]
- genes, sis [MeSH concept]
- genes, vif [MeSH Descriptor]
- genes, vpr [MeSH Descriptor]
- genes, wilms tumor [MeSH Descriptor]
- genetic material [ORDO Gene]
- persons [MeSH Descriptor]
- persons [MeSH concept]
False automatic mappings
- Gene (substance) [SNOMED CT concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Gene [LOINC component]
- Gene (substance) [SNOMED CT concept]
- Genes [LOINC component]
- gene (cistron) [IUPAC Term]
- gene, nos [SNOMED Notion]
- genes [MeSH concept]
- genes [MeSH Descriptor]
concept_is_in_subset
- BRIDG Class Terminology [NCIt concept]
- BRIDG Terminology [NCIt concept]
kind_is_domain_of
- Allele_Absent_From_Wild-type_Chromosomal_Location [NCIt concept]
- Allele_Has_Abnormality [NCIt concept]
- Allele_Has_Activity [NCIt concept]
- Allele_In_Chromosomal_Location [NCIt concept]
- Allele_Plays_Altered_Role_In_Process [NCIt concept]
- Allele_Plays_Role_In_Metabolism_Of_Chemical_Or_Drug [NCIt concept]
- Gene_Associated_With_Disease [NCIt concept]
- Gene_Found_In_Organism [NCIt concept]
- Gene_Has_Abnormality [NCIt concept]
- Gene_Has_Physical_Location [NCIt concept]
- Gene_In_Chromosomal_Location [NCIt concept]
- Gene_Is_Biomarker_Of [NCIt concept]
- Gene_Is_Biomarker_Type [NCIt concept]
- Gene_Is_Element_In_Pathway [NCIt concept]
- Gene_Plays_Role_In_Process [NCIt concept]
kind_is_range_of
- Disease_Mapped_To_Gene [NCIt concept]
- Gene_Involved_In_Pathogenesis_Of_Disease [NCIt concept]
- Gene_Product_Encoded_By_Gene [NCIt concept]
- Molecular_Abnormality_Involves_Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients