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GENE - TERM ANNOTATION REPORT

RGD ID: 1566052
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Elp4
Name: elongator acetyltransferase complex subunit 4
Acc ID: DOID:0070530
Term: foveal hypoplasia 1
Definition: A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)
Definition Source(s): https://disorders.eyes.arizona.edu/category/alternate-names/odonnell-pappas-syndrome "DO" "DO", https://eyewiki.org/Foveal_Hypoplasia "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/12721955/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/24290379/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/7065945/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Elp4 ISOELP4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndromePMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 PMID:8364574
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