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GENE - TERM ANNOTATION REPORT

CRRD ID: 1604786
Species: Homo sapiens
CRRD Object: Gene
Symbol: CEP290
Name: centrosomal protein 290
Acc ID: DOID:0110980
Term: Joubert syndrome 1
Definition: A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19668216
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)
 IAGPRGD:100486018554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:28492532
 IAGPRGD:100486758554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:26467025, PMID:28492532
 IAGPRGD:100520438554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868
 IAGPRGD:104056578554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:28492532
 IAGPRGD:104080698554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:28492532
 IAGPRGD:104080898554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:28492532
 IAGPRGD:104081118554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:28492532
 IAGPRGD:104499128554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:107679878554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:28492532
 IAGPRGD:113456488554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:28492532
 IAGPRGD:113473268554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:28492532
 IAGPRGD:113474218554872ClinVarClinVar Annotator: match by term: Agenesis of cerebellar vermis

PMID:28492532
 IAGPRGD:113485028554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:28492532
 IAGPRGD:113487888554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:28492532
 IAGPRGD:115258188554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:28492532
 IAGPRGD:115443508554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868
 IAGPRGD:115444168554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868
 IAGPRGD:115463068554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:28492532
 IAGPRGD:115774708554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868
 IAGPRGD:115777858554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:115783968554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:28492532
 IAGPRGD:116009438554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868
 IAGPRGD:116013238554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116024438554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:28492532
 IAGPRGD:116028468554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116033768554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116063208554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116066578554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116108858554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116124598554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116134828554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116137658554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116137868554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116139348554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116143888554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:28492532
 IAGPRGD:116145668554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116145708554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116148218554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116148328554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116148558554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116151308554872ClinVarClinVar Annotator: match by term: Agenesis of cerebellar vermis

PMID:28492532
 IAGPRGD:116153938554872ClinVarClinVar Annotator: match by term: Agenesis of cerebellar vermis

PMID:28492532
 IAGPRGD:116156718554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116158528554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116159608554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116168628554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116172918554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116176908554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116180128554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116180168554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116181628554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116182058554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116182078554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116187348554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116190538554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116192808554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116206058554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116207468554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116215518554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116221528554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116232968554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116234018554872ClinVarClinVar Annotator: match by term: Agenesis of cerebellar vermis

PMID:25741868, PMID:28492532
 IAGPRGD:116260978554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:28492532
 IAGPRGD:116352428554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116355578554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116443048554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116447848554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116461968554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116464158554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116488158554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116495028554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116500658554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116504948554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116507938554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116513548554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116527018554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:116541718554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:127390548554872ClinVarClinVar Annotator: match by term: Agenesis of cerebellar vermis

PMID:25741868
 IAGPRGD:134808208554872ClinVarClinVar Annotator: match by term: Agenesis of cerebellar vermis

PMID:25741868, PMID:28492532
 IAGPRGD:85911328554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:17564967, PMID:25741868, PMID:28492532
 IAGPRGD:85911348554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:26467025, PMID:28492532
 IAGPRGD:85911358554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868
 IAGPRGD:85911368554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:28492532
 IAGPRGD:85911428554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:28492532
 IAGPRGD:85911438554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:28492532
 IAGPRGD:85911478554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:28492532
 IAGPRGD:86174588554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:21068128, PMID:28492532
 IAGPRGD:86174668554872ClinVarClinVar Annotator: match by term: Agenesis of cerebellar vermis

PMID:17345604, PMID:17564974, PMID:21602930, PMID:23027964, PMID:25741868, PMID:28492532, PMID:29398085
 IAGPRGD:86174678554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:17564967, PMID:17705300, PMID:19466712, PMID:19764032, PMID:21245082, PMID:25741868, PMID:28041643
 IAGPRGD:86430798554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:26467025
 IAGPRGD:86430818554872ClinVarClinVar Annotator: match by term: Agenesis of cerebellar vermis

PMID:25741868, PMID:28492532
 IAGPRGD:86430838554872ClinVarClinVar Annotator: match by term: Agenesis of cerebellar vermis

PMID:18414213, PMID:25741868, PMID:28492532
 IAGPRGD:86463308554872ClinVarClinVar Annotator: match by term: Agenesis of cerebellar vermis

PMID:16909394, PMID:20079931, PMID:23188109, PMID:23559409, PMID:28492532, PMID:28497568
 IAGPRGD:86904798554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:28492532
 IAGPRGD:86904808554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:28492532
 IAGPRGD:86904818554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:28492532
 IAGPRGD:86904828554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:28492532
 IAGPRGD:96883328554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:28492532
 IAGPRGD:96886088554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868
 IAGPRGD:96927778554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

 
 IAGPRGD:96927788554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868
 IAGPRGD:96927818554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868, PMID:28492532
 IAGPRGD:96927828554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

PMID:25741868
 IAGPRGD:96927848554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis

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.