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GENE - TERM ANNOTATION REPORT

CRRD ID: 1561057
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Cerkl
Name: ceramide kinase-like
Acc ID: DOID:0110368
Term: retinitis pigmentosa 26
Definition: A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/14681825
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:13463817240710OMIM  
 ISORGD:13463818554872ClinVarClinVar Annotator: match by OMIM:608380

 
 ISORGD:13463818554872ClinVarClinVar Annotator: match by OMIM:608380

PMID:24043777
 ISORGD:13463818554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 26

PMID:14681825, PMID:21151602, PMID:22164218, PMID:221642182, PMID:24043777, PMID:24625443, PMID:25097241, PMID:25741868, PMID:25999674, PMID:28041643, PMID:28492532, PMID:30718709
 ISORGD:13463818554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 26

PMID:25741868
 ISORGD:13463818554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 26

PMID:25741868, PMID:28492532
 ISORGD:13463818554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 26

PMID:28041643
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.