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GENE - TERM ANNOTATION REPORT

RGD ID: 620978
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Opn1mw
Name: opsin 1, medium wave sensitive
Acc ID: DOID:0050679
Term: blue cone monochromacy
Definition: An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance. (DO)
Definition Source(s): http://omim.org/entry/303700 "DO" "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16 "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)
Opn1mw ISOOPN1MW (Homo sapiens)7240710OMIM  
Opn1mw ISOOPN1MW (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Opn1mw ISOOPN1MW (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type | ClinVar Annotator: match by term: Cone dystrophy 5, X-linkedPMID:11772996 PMID:1302020 PMID:15094734 PMID:19421413 PMID:20579627 PMID:2788922 PMID:8666378
Opn1mw ISSOpn1mw (Mus musculus)13592920MouseDOOMIM:303700 
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