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GENE - TERM ANNOTATION REPORT

RGD ID: 1311640
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cep290
Name: centrosomal protein 290
Acc ID: DOID:0110136
Term: Bardet-Biedl syndrome 14
Definition: A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18327255
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:16047867240710OMIM  
 ISORGD:16047868554872ClinVarClinVar Annotator: match by term: Bardet-Biedl syndrome 14

PMID:16909394, PMID:17345604, PMID:20690115, PMID:25741868, PMID:28492532
 ISORGD:16047868554872ClinVarClinVar Annotator: match by term: Bardet-Biedl syndrome 14

PMID:17345604, PMID:25741868, PMID:26092869, PMID:28492532, PMID:28497568
 ISORGD:16047868554872ClinVarClinVar Annotator: match by term: Bardet-Biedl syndrome 14

PMID:18327255, PMID:26092869
 ISORGD:16047868554872ClinVarClinVar Annotator: match by term: Bardet-Biedl syndrome 14

PMID:21153841, PMID:23351400, PMID:25741868, PMID:26047050, PMID:28492532
 ISORGD:16047868554872ClinVarClinVar Annotator: match by term: Bardet-Biedl syndrome 14

PMID:25741868
 ISORGD:16047868554872ClinVarClinVar Annotator: match by term: Bardet-Biedl syndrome 14

PMID:25741868, PMID:26092869
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.