Egf-containing fibulin-like extracellular matrix protein 1

Preferred Label : Egf-containing fibulin-like extracellular matrix protein 1;

Symbol : EFEMP1;

CISMeF acronym : EFEMP1;

Type : Gene;

Alternative titles and symbols : Fibrillin-like; Fibulin 3; FBNL; FBLN3; S1-5;

Ensembl ID : ENSG00000115380;

Prefixed ID : *601548;

Details

Origin ID

601548;

UMLS CUI

C1414297;

Automatic exact mappings (from CISMeF team)
- EFEMP1 Gene [NCIt concept]
- EFEMP1 wt Allele [NCIt concept]
- EGF containing fibulin extracellular matrix protein 1 [ORDO Gene]
- EGF containing fibulin extracellular matrix protein 1 [HGNC gene]
- EGF-Containing Fibulin-Like Extracellular Matrix Protein 1 [NCIt concept]
- ribosomal protein S15 [ORDO Gene]
HGNC gene
- EGF containing fibulin extracellular matrix protein 1 [HGNC gene]
NCIt concept(s)
- EFEMP1 Gene [NCIt concept]
- EFEMP1 wt Allele [NCIt concept]
- EGF-Containing Fibulin-Like Extracellular Matrix Protein 1 [NCIt concept]
ORDO concept(s)
- EGF containing fibulin extracellular matrix protein 1 [ORDO Gene]
Phenotypes related
- Cutis laxa, autosomal recessive, type id [OMIM Phenotype]
- Doyne honeycomb retinal dystrophy [OMIM Phenotype]
- Glaucoma 1, open angle, h [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- EFEMP1 Gene [NCIt concept]
- EGF containing fibulin extracellular matrix protein 1 [HGNC gene]

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