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GENE - TERM ANNOTATION REPORT

RGD ID: 62052
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tnni3
Name: troponin I3, cardiac type
Acc ID: DOID:9001591
Term: Ciliary Motility Disorders
Definition: Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.
Definition Source(s): MESH:D002925
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:7372048554872ClinVarClinVar Annotator: match by term: Ciliary dyskinesia

 
 ISORGD:7372048554872ClinVarClinVar Annotator: match by term: Ciliary dyskinesia

PMID:22876777, PMID:24033266, PMID:25741868, PMID:28492532
 ISORGD:7372048554872ClinVarClinVar Annotator: match by term: Ciliary dyskinesia

PMID:24033266, PMID:25741868
 ISORGD:7372048554872ClinVarClinVar Annotator: match by term: Ciliary dyskinesia

PMID:24033266, PMID:25741868, PMID:28492532
 ISORGD:7372048554872ClinVarClinVar Annotator: match by term: Ciliary dyskinesia

PMID:25741868
 ISORGD:7372048554872ClinVarClinVar Annotator: match by term: Ciliary dyskinesia

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.