presenilin 1 - CISMeF

Preferred Label : presenilin 1;

Approved symbol HGNC : PSEN1;

Name synonyms HGNC : familial Alzheimer Disease;

Alias symbols HGNC : FAD; S182; PS1; PSNL1; PS-1;

Chromosome HGNC : 14q24.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000080815;

Details

Origin ID

HGNC:9508;

UMLS CUI

C1418985;

Automatic exact mappings (from CISMeF team)
- Early-onset autosomal dominant Alzheimer disease [ORDO Disease]
- Presenilin 1 [OMIM gene]
- Presenilin-1 [MeSH Descriptor]
- Presenilin-1 [NCIt concept]
- presenilin 1 [ORDO Gene]
NCIt concept
- PSEN1 Gene [NCIt concept]
OMIM gene
- Presenilin 1 [OMIM gene]
Orphanet gene
- presenilin 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PSEN1 Gene [NCIt concept]
- PSEN1 gene [LOINC component]
- Presenilin 1 [OMIM gene]

Keyword's position in hierarchy(ies) :

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