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GENE - TERM ANNOTATION REPORT

RGD ID: 1308528
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Efemp1
Name: EGF containing fibulin extracellular matrix protein 1
Acc ID: DOID:0060745
Term: Doyne honeycomb retinal dystrophy
Definition: A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10369267, https://www.ncbi.nlm.nih.gov/pubmed/11384588
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13183511598888RGDDNA:missense mutation:cds:p.R345W (human)

 
 ISORGD:13183517240710OMIM  
 ISORGD:13183518554872ClinVarClinVar Annotator: match by OMIM:126600

 
 ISORGD:13183518554872ClinVarClinVar Annotator: match by OMIM:126600

PMID:10369267, PMID:11389162, PMID:17666404, PMID:22031286
 ISORGD:13183518554872ClinVarClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy

PMID:25741868
 ISORGD:131835110401794RGDprotein:altered expression: :

 
 ISORGD:131835210401791RGD  
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.