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GENE - TERM ANNOTATION REPORT

RGD ID: 735617
Species: Homo sapiens
RGD Object: Gene
Symbol: ROBO1
Name: roundabout guidance receptor 1
Acc ID: DOID:0111797
Term: autosomal recessive congenital nystagmus
Definition: A congenital nystagmus characterized by autosomal recessive inheritance. (DO)
Definition Source(s): https://europepmc.org/article/med/305814 "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)
ROBO1 IAGP 7240710OMIM  
ROBO1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nystagmus, congenital, autosomal recessivePMID:25741868 PMID:28492532 PMID:35348658
ROBO1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nystagmus, congenital motor, autosomal recessivePMID:25741868
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