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GENE - TERM ANNOTATION REPORT

RGD ID: 1561057
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cerkl
Name: ceramide kinase-like
Acc ID: DOID:10584
Term: retinitis pigmentosa
Definition: A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Retinitis_pigmentosa "DO" "DO", http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa "DO" "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/ "DO" "DO", https://www.genome.gov/Genetic-Disorders/Retinitis-Pigmentosa "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)
Cerkl ISOCERKL (Homo sapiens)1600829RGDDNA:mutation:exon 
CerklsusceptibilityISOCERKL (Homo sapiens)9068941RGDDNA:mutation:exonPMID:14681825 REF_RGD_ID:1600829
Cerkl ISOCERKL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosaPMID:14681825 PMID:15708351 PMID:16199547 PMID:17576681 PMID:18055789 PMID:18978954 PMID:19501188 PMID:19578027 PMID:20554613 PMID:21151602 PMID:22164218 PMID:221642182 PMID:23105016 PMID:23591405 PMID:24043777 PMID:24123366 PMID:24498393 PMID:24547929 PMID:24625443 PMID:24705292 PMID:24735978 PMID:25097241 PMID:25342276 PMID:25741868 PMID:25741913 PMID:25741915 PMID:25999674 PMID:26355662 PMID:27208204 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28838317 PMID:29068140 PMID:30054919 PMID:30718709 PMID:31456290 PMID:31816670 PMID:32037395 PMID:32531858 PMID:33322828 PMID:33749171 PMID:33921607 PMID:34315337 PMID:34906470 PMID:35119454 PMID:35318874 PMID:36909829 PMID:9536098
Cerkl ISOCERKL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosaPMID:14681825 PMID:15708351 PMID:16199547 PMID:17576681 PMID:18055789 PMID:18978954 PMID:19501188 PMID:19578027 PMID:20554613 PMID:21151602 PMID:22164218 PMID:221642182 PMID:23105016 PMID:23591405 PMID:24043777 PMID:24123366 PMID:24498393 PMID:24547929 PMID:24625443 PMID:24705292 PMID:24735978 PMID:25097241 PMID:25342276 PMID:25741868 PMID:25999674 PMID:26355662 PMID:27208204 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28838317 PMID:29068140 PMID:30054919 PMID:30718709 PMID:31456290 PMID:31816670 PMID:32037395 PMID:32531858 PMID:33322828 PMID:33749171 PMID:33921607 PMID:34315337 PMID:34906470 PMID:35318874 PMID:36909829 PMID:9536098
Cerkl ISOCERKL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degenerationPMID:14681825 PMID:15708351 PMID:16199547 PMID:17576681 PMID:18055789 PMID:18978954 PMID:19501188 PMID:19578027 PMID:20554613 PMID:21151602 PMID:22164218 PMID:221642182 PMID:23105016 PMID:23591405 PMID:24043777 PMID:24123366 PMID:24498393 PMID:24547929 PMID:24625443 PMID:24705292 PMID:24735978 PMID:25097241 PMID:25342276 PMID:25741868 PMID:25999674 PMID:26355662 PMID:27208204 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28838317 PMID:29068140 PMID:30054919 PMID:30718709 PMID:31456290 PMID:31816670 PMID:32037395 PMID:32531858 PMID:33322828 PMID:33749171 PMID:34315337 PMID:34906470 PMID:35318874 PMID:9536098
Cerkl ISOCERKL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degenerationPMID:14681825 PMID:15708351 PMID:17576681 PMID:20554613 PMID:21151602 PMID:22164218 PMID:221642182 PMID:23105016 PMID:23591405 PMID:24043777 PMID:24123366 PMID:24498393 PMID:24625443 PMID:25097241 PMID:25342276 PMID:25741868 PMID:25999674 PMID:26355662 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29068140 PMID:30054919 PMID:30718709 PMID:31456290 PMID:32531858 PMID:9536098
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