U6 snRNA biogenesis phosphodiesterase 1

Preferred Label : U6 snRNA biogenesis phosphodiesterase 1;

Approved symbol HGNC : USB1;

Name synonyms HGNC : poikiloderma with neutropenia; HVSL motif containing 1; U six biogenesis 1; mutated in poikiloderma with neutropenia protein 1;

Alias symbols HGNC : Mpn1; HVSL1; FLJ13154;

Chromosome HGNC : 16q21;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000103005;

Details

Origin ID

HGNC:25792;

UMLS CUI

C1824414;

Automatic exact mappings (from CISMeF team)
- Poikiloderma with Neutropenia [NCIt concept]
- Poikiloderma with neutropenia [OMIM Phenotype]
- Poikiloderma with neutropenia [ORDO Disease]
- Poikiloderma with neutropenia (disorder) [SNOMED CT concept]
- U6 small nuclear rna biogenesis phosphodiesterase 1 [OMIM gene]
- U6 snRNA Phosphodiesterase [NCIt concept]
- U6 snRNA biogenesis phosphodiesterase 1 [ORDO Gene]
- poikiloderma with neutropenia [DO Concept]
- poikiloderma with neutropenia [MeSH Supplementary Concept]
- poikiloderma with neutropenia [MeSH concept]
NCIt concept
- USB1 Gene [NCIt concept]
OMIM gene
- U6 small nuclear rna biogenesis phosphodiesterase 1 [OMIM gene]
Orphanet gene
- U6 snRNA biogenesis phosphodiesterase 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- U6 small nuclear rna biogenesis phosphodiesterase 1 [OMIM gene]
- USB1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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