EFEMP1 wt Allele

Preferred Label : EFEMP1 wt Allele;

NCIt synonyms : Fibrillin-Like Gene; MTLV; DRAD; FIBL-3; FBLN3; DHRD; EGF Containing Fibulin-Like Extracellular Matrix Protein 1 Gene; FBNL; EGF Containing Fibulin Like Extracellular Matrix Protein 1 wt Allele; MLVT; S1-5; Fibulin 3 Gene;

NCIt definition : Human EFEMP1 wild-type allele is located in the vicinity of 2p16 and is approximately 58 kb in length. This allele, which encodes EGF-containing fibulin-like extracellular matrix protein 1, plays a role in cell surface receptor binding. Aberrant expression of the gene is associated with glioma. Mutation of the gene is associated with Doyne honeycomb retinal dystrophy.;

GenBank Accession Number : U03877;

Details

Origin ID

C106347;

UMLS CUI

C3810646;

Automatic exact mappings (from CISMeF team)
- Doyne honeycomb retinal dystrophy [OMIM Phenotype]
- Doyne honeycomb retinal dystrophy [DO Concept]
- EGF containing fibulin extracellular matrix protein 1 [ORDO Gene]
- Egf-containing fibulin-like extracellular matrix protein 1 [OMIM gene]
- Familial drusen [ORDO Disease]
- ribosomal protein S15 [ORDO Gene]
OMIM relation
- Egf-containing fibulin-like extracellular matrix protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2p16 [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Negative Regulation of Cell Differentiation [NCIt concept]
- Receptor Signaling [NCIt concept]
- Sight [NCIt concept]

Keyword's position in hierarchy(ies) :

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