RB1 wt Allele - CISMeF

Preferred Label : RB1 wt Allele;

NCIt synonyms : RB; Protein Phosphatase 1, Regulatory Subunit 130 Gene; p110-RB1; OSRC; RB Transcriptional Corepressor 1 wt Allele; Retinoblastoma 1 (Including Osteosarcoma) Gene; pRb; Retinoblastoma 1 Gene; pp110; PPP1R130; p105-Rb;

NCIt definition : Human RB1 wild-type allele is located in the vicinity of 13q14.2 and is approximately 178 kb in length. This allele, which encodes retinoblastoma-associated protein, is involved in the modulation of cellular proliferation. Mutation or deletion of the wild-type allele is a factor in the childhood onset of hereditary retinal cancer.;

GenBank Accession Number : NM_000321;

Details

Origin ID

C52102;

UMLS CUI

C1705628;

Automatic exact mappings (from CISMeF team)
- RB transcriptional corepressor 1 [ORDO Gene]
- Retinoblastoma [OMIM Phenotype]
- Roberts-sc phocomelia syndrome [OMIM Phenotype]
- establishment of sister chromatid cohesion N-acetyltransferase 2 [ORDO Gene]
- retinoblastoma [DO Concept]
OMIM relation
- Rb transcriptional corepressor 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- RB1 Gene Inactivation [NCIt concept]
gene_in_chromosomal_location
- 13q14.1-q14.2 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Leiomyosarcoma [NCIt concept]
- Pineoblastoma, RB1-Altered [NCIt concept]
- Retinoblastoma [NCIt concept]
gene_is_element_in_pathway
- ATF-2 Transcription Factor Signaling Pathway [NCIt concept]
- BTG Cell Cycle Regulation Pathway [NCIt concept]
- Bladder Cancer Pathway [NCIt concept]
- Cell Cycle Pathway [NCIt concept]
- Cell Cycle Progression Pathway [NCIt concept]
- Ceramide Signaling Pathway PID [NCIt concept]
- Chronic Myeloid Leukemia Pathway [NCIt concept]
- Cyclin E Degradation Pathway [NCIt concept]
- Cyclin Regulation of Cell Cycle Pathway [NCIt concept]
- E2F Transcription Factor Pathway [NCIt concept]
- E2F1 Degradation Pathway [NCIt concept]
- FOXM1 Transcription Factor Signaling Pathway [NCIt concept]
- Fas Signaling Pathway BioCarta [NCIt concept]
- G1 to S Transition Pathway [NCIt concept]
- G1/S Checkpoint Pathway [NCIt concept]
- Glioblastoma Multiforme Pathway [NCIt concept]
- HIV-I Nef in Apoptosis Pathway [NCIt concept]
- Human Cytomegalovirus Infection Pathway [NCIt concept]
- Interferon Signaling Modulation Pathway [NCIt concept]
- Melanoma Pathway [NCIt concept]
- Non-Small Cell Lung Cancer Pathway [NCIt concept]
- PPAR-alpha Gene Regulation Pathway [NCIt concept]
- Pancreatic Cancer Pathway [NCIt concept]
- Prostate Cancer Pathway [NCIt concept]
- RB Checkpoint Signaling Pathway [NCIt concept]
- Regulation of Retinoblastoma Protein Pathway [NCIt concept]
- Ribosomal Biogenesis Pathway [NCIt concept]
- Small Cell Lung Cancer Pathway [NCIt concept]
- TNFR1 Signaling Pathway [NCIt concept]
- Telomere Pathway [NCIt concept]
- Terc Regulation Pathway [NCIt concept]
- p27 Regulation Pathway [NCIt concept]
- p53 Effector Pathway [NCIt concept]
- p53 Signaling Pathway BioCarta [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Process [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- DNA Binding [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

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