ELN Allele with Mm Haplotype for INT20/INT23

Preferred Label : ELN Allele with Mm Haplotype for INT20/INT23;

NCIt synonyms : ELN with Major Allele for Intron-20 and Minor Allele for Intron-23; Mm INT20/INT23 Haplotype;

NCIt definition : Human ELN allele containing a pair of single nucleotide polymorphisms with a major allele of intron-20 (INT20), where nucleotide position 17 is a thymine, and the minor allele for intron-23 (INT23), where nucleotide position 24 is a cytosine. This haplotype may be associated with increased susceptibility for intracranial aneurysms.;

NCI Metathesaurus CUI : CL508681;

PubMed : 11536080;

Details

Origin ID

C128301;

UMLS CUI

C4289653;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Movement [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Wound Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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