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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 alteration in the red (OPN1LW) and green (OPN1MW) visual pigment gene cluster on chromosome Xq28 or in the locus control region for the red and green pigment genes, located adjacent to and 5-prime of the pigment gene cluster. (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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