Presenilin 1 - CISMeF

Preferred Label : Presenilin 1;

Symbol : PSEN1;

CISMeF acronym : PSEN1;

Type : Gene;

Alternative titles and symbols : PS1; S182;

Ensembl ID : ENSG00000080815;

Prefixed ID : *104311;

Details

Origin ID

104311;

UMLS CUI

C1418985;

Automatic exact mappings (from CISMeF team)
- PSEN1 Gene [NCIt concept]
- PSEN1 gene [LOINC component]
- PSEN1 wt Allele [NCIt concept]
- Presenilin-1 [MeSH Descriptor]
- Presenilin-1 [NCIt concept]
- presenilin 1 [ORDO Gene]
- presenilin 1 [HGNC gene]
HGNC gene
- presenilin 1 [HGNC gene]
NCIt concept(s)
- PSEN1 Gene [NCIt concept]
- PSEN1 wt Allele [NCIt concept]
- Presenilin-1 [NCIt concept]
- Presenilin-2 [NCIt concept]
ORDO concept(s)
- presenilin 1 [ORDO Gene]
Phenotypes related
- Acne inversa, familial, 3 [OMIM Phenotype]
- Alzheimer disease 3 [OMIM Phenotype]
- Cardiomyopathy, dilated, 1u [OMIM Phenotype]
- Frontotemporal dementia [OMIM Phenotype]
- Pick disease of brain [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PSEN1 Gene [NCIt concept]
- PSEN1 gene [LOINC component]
- presenilin 1 [HGNC gene]

Keyword's position in hierarchy(ies) :

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