NOTCH2 wt Allele

Preferred Label : NOTCH2 wt Allele;

NCIt synonyms : hN2; Notch Homolog 2 (Drosophila) Gene; AGS2; Notch 2 wt Allele; HJCYS; Notch (Drosophila) Homolog 2 Gene; Notch, Drosophila, Homolog of, 2 Gene; Notch Homolog 2 Gene;

NCIt definition : Human NOTCH2 wild-type allele is located within 1p13-p11 and is approximately 158 kb in length. This allele, which encodes neurogenic locus notch homolog protein 2, is involved in the mediation of cell-cell signaling. Mutation of the gene is associated with both Alagille syndrome type 2 and Hajdu-Cheney syndrome.;

GenBank Accession Number : AF315356;

Details

Origin ID

C97678;

UMLS CUI

C3273561;

Automatic exact mappings (from CISMeF team)
- Aicardi-goutieres syndrome 2 [OMIM Phenotype]
- Chlormethine hydrochloride (substance) [SNOMED CT concept]
- Hajdu-Cheney syndrome [DO Concept]
- Hajdu-cheney syndrome [OMIM Phenotype]
- Mechlorethamine hydrochloride (product) [Inactive SNOMED CT concept]
- ribonuclease H2 subunit B [ORDO Gene]
OMIM relation
- Notch receptor 2 [OMIM gene]
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_involved_in_pathogenesis_of_disease
- BN2 Diffuse Large B-Cell Lymphoma [NCIt concept]
gene_is_element_in_pathway
- Dorso-Ventral Axis Formation Pathway [NCIt concept]
- Notch Signaling Pathway [NCIt concept]
- Segmentation Clock Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Fate Control [NCIt concept]
- Intercellular Communication Induction [NCIt concept]
- Ligand Binding [NCIt concept]
- Negative Regulation of Apoptosis [NCIt concept]
- Positive Regulation of Apoptosis [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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