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GENE - TERM ANNOTATION REPORT

RGD ID: 18558550
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: CFAP418
Name: cilia and flagella associated protein 418
Acc ID: DOID:0111022
Term: cone-rod dystrophy 16
Definition: A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26865426 "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)
CFAP418 ISOCFAP418 (Homo sapiens)7240710OMIM  
CFAP418 ISOCFAP418 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CFAP418-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy 16 | ClinVar Annotator: match by term: Retinitis pigmentosa 64PMID:16199547 PMID:22177090 PMID:25515582 PMID:25741868 PMID:25802487 PMID:26355662 PMID:26854863 PMID:26865426 PMID:27008867 PMID:28492532 PMID:29127258 PMID:29843741 PMID:30029497 PMID:31456290 PMID:34906470
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