CYCS wt Allele

Preferred Label : CYCS wt Allele;

NCIt synonyms : CYC; HCS; Cytochrome C, Somatic wt Allele; THC4;

NCIt definition : Human CYCS wild-type allele is located in the vicinity of 7p15.3 and is approximately 7 kb in length. This allele, which encodes cytochrome c protein, plays a role in the mitochondrial electron transport chain. Mutation of the gene is associated with thrombocytopenia 4.;

NCI Metathesaurus CUI : CL512863;

GenBank Accession Number : M22877;

Details

Origin ID

C129850;

UMLS CUI

C4321251;

Automatic exact mappings (from CISMeF team)
- Congenital adrenal hyperplasia [ORDO Disease]
- Cytochrome C, somatic [OMIM gene]
- Holocarboxylase synthetase [OMIM gene]
- Human placental lactogen (substance) [SNOMED CT concept]
- Hypotonia-cystinuria syndrome [ORDO Disease]
- Thrombocytopenia 4 [OMIM Phenotype]
- adrenal hyperplasia, congenital [MeSH Descriptor]
- biotin-[acetyl-CoA-carboxylase] ligase activity [GO term]
- cytochrome c, somatic [ORDO Gene]
- holocarboxylase synthetase [ORDO Gene]
False automatic mappings
- Hypotonia-cystinuria syndrome [ICD-11 More detail]
OMIM relation
- Cytochrome C, somatic [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_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
- Apoptosis Pathway [NCIt concept]
- Colorectal Cancer Pathway [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
- Parkinson's Disease Pathway KEGG [NCIt concept]
- Small Cell Lung Cancer Pathway [NCIt concept]
- Sulfur Metabolism Pathway [NCIt concept]
- Viral Myocarditis Pathway [NCIt concept]
- p53 Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Energy Metabolism Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients