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GENE - TERM ANNOTATION REPORT

RGD ID: 12703596
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Cplane1
Name: ciliogenesis and planar polarity effector complex subunit 1
Acc ID: DOID:0060376
Term: Joubert syndrome with orofaciodigital defect
Definition: A Joubert syndrome that is characterized by orofaciodigital defect. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23716954 "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)
Cplane1 ISOCPLANE1 (Homo sapiens)7240710OMIM  
Cplane1 ISOCPLANE1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: Varadi-Papp syndromePMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 PMID:22425360 PMID:22693042 PMID:23523602 PMID:24091540 PMID:24178751 PMID:25407461 PMID:25533962 PMID:25558065 PMID:25741868 PMID:25846457 PMID:25920555 PMID:26092869 PMID:27081551 PMID:27158779 PMID:28125082 PMID:28289185 PMID:28431631 PMID:28454995 PMID:28492532 PMID:28771248 PMID:28976722 PMID:29146704 PMID:29321670 PMID:29605658 PMID:30408610 PMID:30919572 PMID:31130284 PMID:31158925 PMID:31216405 PMID:31980526 PMID:32037395 PMID:32233090 PMID:33176815 PMID:33774617 PMID:34008892 PMID:34091942 PMID:9536098
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