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GENE - TERM ANNOTATION REPORT

RGD ID: 12426390
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: TOGARAM1
Name: TOG array regulator of axonemal microtubules 1
Acc ID: DOID:9007319
Term: Joubert Syndrome 37
Definition: An autosomal recessive neurodevelopmental ciliopathy characterized classically by a distinctive hindbrain malformation affecting the midbrain and cerebellum, recognizable as the 'molar tooth sign' on brain imaging. Caused by homozygous or compound heterozygous mutation in the TOGARAM1 gene on chromosome 14q21. (OMIM)
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)
TOGARAM1 ISOTOGARAM1 (Homo sapiens)7240710OMIM  
TOGARAM1 ISOTOGARAM1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Joubert syndrome 37PMID:25741868 PMID:32453716 PMID:32747439
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