Elastin microfibril interfacer 1

Preferred Label : Elastin microfibril interfacer 1;

Symbol : EMILIN1;

CISMeF acronym : EMILIN1;

Type : Gene;

Alternative titles and symbols : Elastin microfibril interface-located protein; EMILIN;

Ensembl ID : ENSG00000138080;

Prefixed ID : *130660;

Details

Origin ID

130660;

UMLS CUI

C1366506;

Automatic exact mappings (from CISMeF team)
- EMILIN-1 [NCIt concept]
- EMILIN1 Gene [NCIt concept]
- EMILIN1 wt Allele [NCIt concept]
- elastin microfibril interface located protein [MeSH Supplementary Concept]
- elastin microfibril interfacer 1 [ORDO Gene]
- elastin microfibril interfacer 1 [HGNC gene]
HGNC gene
- elastin microfibril interfacer 1 [HGNC gene]
NCIt concept(s)
- EMILIN-1 [NCIt concept]
- EMILIN1 Gene [NCIt concept]
- EMILIN1 wt Allele [NCIt concept]
ORDO concept(s)
- elastin microfibril interfacer 1 [ORDO Gene]
Phenotypes related
- Arterial tortuosity-bone fragility syndrome [OMIM Phenotype]
- Neuronopathy, distal hereditary motor, autosomal dominant 10 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- EMILIN1 Gene [NCIt concept]
- elastin microfibril interfacer 1 [HGNC gene]

Keyword's position in hierarchy(ies) :

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