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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:12712
Term: nephronophthisis
Definition: An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). (DO)
Definition Source(s): http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/
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:16047868554872ClinVarClinVar Annotator: match by term: Nephronophthisis

 
 ISORGD:16047868554872ClinVarClinVar Annotator: match by term: Nephronophthisis

PMID:16909394, PMID:17345604, PMID:20690115, PMID:25741868, PMID:28492532
 ISORGD:16047868554872ClinVarClinVar Annotator: match by term: Nephronophthisis

PMID:16909394, PMID:20079931, PMID:23188109, PMID:23559409, PMID:28492532, PMID:28497568
 ISORGD:16047868554872ClinVarClinVar Annotator: match by term: Nephronophthisis

PMID:17345604, PMID:17564974, PMID:21602930, PMID:23027964, PMID:25741868, PMID:28492532, PMID:29398085
 ISORGD:16047868554872ClinVarClinVar Annotator: match by term: Nephronophthisis

PMID:17345604, PMID:25741868, PMID:26092869, PMID:28492532, PMID:28497568
 ISORGD:16047868554872ClinVarClinVar Annotator: match by term: Nephronophthisis

PMID:17564967, PMID:17705300, PMID:19466712, PMID:19764032, PMID:20683928, PMID:21245082, PMID:25741868, PMID:28041643, PMID:28492532
 ISORGD:16047868554872ClinVarClinVar Annotator: match by term: Nephronophthisis

PMID:21153841, PMID:23351400, PMID:25741868, PMID:26047050, PMID:28492532
 ISORGD:16047868554872ClinVarClinVar Annotator: match by term: Nephronophthisis

PMID:25741868, PMID:28492532
 ISORGD:16047868554872ClinVarClinVar Annotator: match by term: Nephronophthisis

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.