About: EYA1 wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • EYA1 wt Allele
rdfs:subClassOf
OMIM_Number
  • 601653
GenBank_Accession_Number
  • AJ000098
Semantic_Type
  • Gene or Genome
Preferred_Name
  • EYA1 wt Allele
UMLS_CUI
  • C2699845
EntrezGene_ID
  • 2138
Legacy_Concept_Name
  • EYA_wt_Allele
HGNC_ID
  • HGNC:3519
FULL_SYN
  • Eyes Absent Homolog 1 (Drosophila) wt AlleleSYNCI
  • EYA1 wt AllelePTNCI
  • BOPSYNCI
  • BORSYNCI
  • MGC141875SYNCI
DEFINITION
  • Human EYA1 wild-type allele is located in the vicinity of 8q13.3 and is approximately 165 kb in length. This allele, which encodes eyes absent homolog 1 protein, may be involved in the development of the eyes, ears, branchial arches and kidney. Mutations of this gene are associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, congenital cataracts and ocular anterior segment anomalies.NCIEntrez Gene
code
  • C75391
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