HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

Preferred Label : HPS1 biogenesis of lysosomal organelles complex 3 subunit 1;

Approved symbol HGNC : HPS1;

Alias symbols HGNC : BLOC3S1;

Chromosome HGNC : 10q24.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000107521;

Details

Origin ID

HGNC:5163;

UMLS CUI

C1415707;

Automatic exact mappings (from CISMeF team)
- Hermansky-pudlak syndrome 1 [OMIM Phenotype]
- Hps1 biogenesis of lysosomal organelles complex 3, subunit 1 [OMIM gene]
NCIt concept
- HPS1 Gene [NCIt concept]
OMIM gene
- Hps1 biogenesis of lysosomal organelles complex 3, subunit 1 [OMIM gene]
Orphanet gene
- HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- HPS1 Gene [NCIt concept]
- HPS1 gene [LOINC component]
- Hps1 biogenesis of lysosomal organelles complex 3, subunit 1 [OMIM gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients