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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:0050978
Term: spinocerebellar ataxia type 29
Definition: An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29
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:115258188554872ClinVarClinVar Annotator: match by term: Cerebellar vermis aplasia

PMID:28492532
 IAGPRGD:115783968554872ClinVarClinVar Annotator: match by term: Cerebellar vermis aplasia

PMID:25741868, PMID:28492532
 IAGPRGD:116234018554872ClinVarClinVar Annotator: match by term: Cerebellar vermis aplasia

PMID:25741868, PMID:28492532
 IAGPRGD:127390548554872ClinVarClinVar Annotator: match by term: Cerebellar vermis aplasia

PMID:25741868
 IAGPRGD:134808208554872ClinVarClinVar Annotator: match by term: Cerebellar vermis aplasia

PMID:25741868, PMID:28492532
 IAGPRGD:86174668554872ClinVarClinVar Annotator: match by term: Cerebellar vermis aplasia

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

PMID:17564967, PMID:17705300, PMID:19466712, PMID:19764032, PMID:21245082, PMID:25741868, PMID:28041643
 IAGPRGD:86463308554872ClinVarClinVar Annotator: match by term: Cerebellar vermis aplasia

PMID:16909394, PMID:20079931, PMID:23188109, PMID:23559409, PMID:28492532, PMID:28497568
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.