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GENE - TERM ANNOTATION REPORT

RGD ID: 737459
Species: Homo sapiens
RGD Object: Gene
Symbol: PAX6
Name: paired box 6
Acc ID: HP:0000666
Term: Horizontal nystagmus
Definition: Nystagmus consisting of horizontal to-and-fro eye movements.
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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)
PAX6 IAGP 8552277RGDassociated with Cataract;DNA:nonsense mutation:cds:p.R103X 
PAX6susceptibilityIAGP 8551856RGDDNA:deletion, snp:cds:p.R38GfsX16, p.S121L 
PAX6susceptibilityIAGP 8551859RGDDNA:deletion:cds:p.Q297HfsX68 
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