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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:9650
Term: pathologic nystagmus
Definition: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
Definition Source(s): MESH:D009759
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: Nystagmus

PMID:17564967, PMID:25741868, PMID:26092869
 ISORGD:16047868554872ClinVarClinVar Annotator: match by term: Nystagmus

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