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GENE - TERM ANNOTATION REPORT

RGD ID: 737322
Species: Homo sapiens
RGD Object: Gene
Symbol: STXBP1
Name: syntaxin binding protein 1
Acc ID: HP:0000486
Term: Strabismus
Definition: A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Definition Source(s): https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:26319345
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)
STXBP1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Strabismus

PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26865513 PMID:27779742 PMID:28492532 PMID:30185235 PMID:30842647
STXBP1 IAGP 8699517HPO ORPHA:495818
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