RIT1 wt Allele

Preferred Label : RIT1 wt Allele;

NCIt synonyms : MGC125865; NS8; RIBB; RIT; Ric (Drosophila)-Like, Expressed in Many Tissues Gene; Ric-Like, Expressed in Many Tissues Gene; MGC125864; ROC1; Ras Like Without CAAX 1 wt Allele;

NCIt definition : Human RIT1 wild-type allele is located in the vicinity of 1q22 and is approximately 14 kb in length. This allele, which encodes GTP-binding protein Rit1, is involved in signaling pathway regulation. Mutation of the gene is associated with Noonan syndrome type 8.;

NCI Metathesaurus CUI : CL1412949;

GenBank Accession Number : AF084462;

Details

Origin ID

C175642;

UMLS CUI

C5444209;

Automatic exact mappings (from CISMeF team)
- Noonan syndrome 8 [OMIM Phenotype]
- Noonan syndrome 8 [DO Concept]
- Ras like without CAAX 1 [ORDO Gene]
- Ric-like protein without caax motif 1 [OMIM gene]
- Ring-box 1 [OMIM gene]
OMIM relation
- Ric-like protein without caax motif 1 [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_in_chromosomal_location
- 1q22 [NCIt concept]
gene_is_element_in_pathway
- NTRK1/MAPK Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- GTP Binding [NCIt concept]
- Hydrolysis [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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