BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

Preferred Label : BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone;

Approved symbol HGNC : BCS1L;

Name synonyms HGNC : Bjornstad syndrome; GRACILE syndrome;

Alias symbols HGNC : h-BCS; Hs.6719; BCS; BJS;

Chromosome HGNC : 2q35;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000074582;

Details

Origin ID

HGNC:1020;

UMLS CUI

C1412777;

Automatic exact mappings (from CISMeF team)
- BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [ORDO Gene]
- Bcs1 homolog, ubiquinol-cytochrome C reductase complex chaperone [OMIM gene]
- Bjornstad syndrome [OMIM Phenotype]
- Bjornstad syndrome [DO Concept]
- Bjornstad syndrome [MeSH concept]
- Bjornstad syndrome [PASCAL descriptor]
- Björnstad syndrome [ICD-11 More detail]
- Björnstad syndrome [ORDO Disease]
- GRACILE - [Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death] syndrome [ICD-11 More detail]
- GRACILE syndrome [MedDRA Preferred Term]
- GRACILE syndrome [ORDO Disease]
- GRACILE syndrome [DO Concept]
- Gracile syndrome [OMIM Phenotype]
- Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (disorder) [SNOMED CT concept]
- Pili torti-deafness syndrome (disorder) [SNOMED CT concept]
- bjornstad syndrome [MeSH Supplementary Concept]
- finnish lethal neonatal metabolic syndrome [MeSH Supplementary Concept]
OMIM gene
- Bcs1 homolog, ubiquinol-cytochrome C reductase complex chaperone [OMIM gene]
Orphanet gene
- BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- BCS1L gene [LOINC component]
- Bcs1 homolog, ubiquinol-cytochrome C reductase complex chaperone [OMIM gene]

Keyword's position in hierarchy(ies) :

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