EYS wt Allele - CISMeF

Preferred Label : EYS wt Allele;

NCIt synonyms : Eyes Shut Homolog wt Allele; Chromosome 6 Open Reading Frame 178 Gene; bA307F22.3; Eyes Shut, Drosophila, Homolog of Gene; Spacemaker Gene; Chromosome 6 Open Reading Frame 180 Gene; C6orf180; UNQ9424/PRO34591; RP25; dJ1018A4.2; Retinitis Pigmentosa 25 (Autosomal Recessive) Gene; EGFL10; EGFL11; SPAM; EGF-Like-Domain, Multiple 11 Gene; Chromosome 6 Open Reading Frame 179 Gene; dJ22I17.2; bA74E24.1; dJ303F19.1; C6orf178; C6orf179; bA166P24.2; Eyes Shut Homolog (Drosophila) Gene; EGF-Like-Domain, Multiple 10 Gene;

NCIt definition : Human EYS wild-type allele is located in the vicinity of 6q12 and is approximately 1987 kb in length. This allele, which encodes protein eyes shut homolog, is involved in retinal function. Mutation of the gene is associated with autosomal recessive retinitis pigmentosa 25.;

NCI Metathesaurus CUI : CL1772912;

GenBank Accession Number : NM_001292009;

Details

Origin ID

C184968;

UMLS CUI

C5575285;

Automatic exact mappings (from CISMeF team)
- Eyes shut homolog [OMIM gene]
- Retinitis pigmentosa 25 [OMIM Phenotype]
- eyes shut homolog [ORDO Gene]
- retinitis pigmentosa 25 [DO Concept]
OMIM relation
- Eyes shut homolog [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6q12 [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Visual Perception [NCIt concept]

Keyword's position in hierarchy(ies) :

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