RFC1 wt Allele

Preferred Label : RFC1 wt Allele;

NCIt synonyms : Replication Factor C (Activator 1) 1 (145kD) Gene; MHC Binding Factor, Beta Gene; RFC, 140-kD Subunit Gene; MHCBFB; Replication Factor C, Subunit 1 Gene; Replication Factor C 140-kD Subunit Gene; RFC140; RECC1; Replication Factor C (Activator 1) 1, 145kDa Gene; RFC; A1; CANVAS; Replication Factor C Subunit 1 wt Allele; Activator 1, 140-kD Subunit Gene; RFC, 140 kD Subunit Gene; PO-GA;

NCIt definition : Human RFC1 wild-type allele is located in the vicinity of 4p14 and is approximately 79 kb in length. This allele, which encodes replication factor C subunit 1 protein, plays a role in DNA replication and transcriptional regulation. Repeat expansion mutations in the gene are associated with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS).;

NCI Metathesaurus CUI : CL1663373;

GenBank Accession Number : L23320;

Details

Origin ID

C180771;

UMLS CUI

C5551107;

Automatic exact mappings (from CISMeF team)
- Canvas [ICD-11 Extension code]
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [ORDO Disease]
- Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome [OMIM Phenotype]
- Replication factor C, subunit 1 [OMIM gene]
- Trunk of apical segmental artery [FMA entity]
- auditory cortex [Radlex concept]
- replication factor C subunit 1 [ORDO Gene]
- replication factor C subunit 2 [ORDO Gene]
- replication factor C subunit 3 [HGNC gene]
OMIM relation
- Replication factor C, subunit 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
- 4p14 [NCIt concept]
gene_is_element_in_pathway
- DNA Replication Pathway [NCIt concept]
- FAS Signaling Pathway PID [NCIt concept]
- Mismatch Repair Pathway [NCIt concept]
- Nucleotide Excision Repair Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Process [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- DNA Replication [NCIt concept]
- Nucleotide Excision Repair [NCIt concept]
- Telomere Maintenance [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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