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GENE - TERM ANNOTATION REPORT

CRRD ID: 1306083
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Cabp4
Name: calcium binding protein 4
Acc ID: DOID:13911
Term: achromatopsia
Definition: A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Achromatopsia, http://www.ncbi.nlm.nih.gov/books/NBK1418/, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=49382, http://www.sciencedirect.com/science/article/pii/S0161642009010008
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:13144938554872ClinVarClinVar Annotator: match by term: Achromatopsia

PMID:19074807, PMID:23714322, PMID:30718709
 ISORGD:13144938554872ClinVarClinVar Annotator: match by term: Achromatopsia

PMID:30718709
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.