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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:10584
Term: retinitis pigmentosa
Definition: Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina.
Definition Source(s): MESH:D012174, http://en.wikipedia.org/wiki/Retinitis_pigmentosa, http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/
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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