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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:0050572
Term: cone-rod dystrophy
Definition: Genetically heterogeneous and sometimes syndromic (e.g., BARDET BIEDL SYNDROME; and SPINOCEREBELLAR ATAXIA TYPE 7) retinopathies with initial RETINAL CONE involvement. They are characterized by decreased VISUAL ACUITY; COLOR VISION DEFECTS; progressive loss of peripheral vision and night blindness.
Definition Source(s): MESH:D000071700, http://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy
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: Cone rod dystrophy

PMID:28041643
 ISORGD:13144938554872ClinVarClinVar Annotator: match by term: Cone-rod dystrophy

PMID:19074807, PMID:23714322, PMID:30718709
 ISORGD:13144938554872ClinVarClinVar Annotator: match by term: Cone-rod dystrophy

PMID:30718709
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