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GENE - TERM ANNOTATION REPORT

RGD ID: 1615813
Species: Mus musculus
RGD Object: Gene
Symbol: Saxo5
Name: stabilizer of axonemal microtubules 5
Acc ID: DOID:0080490
Term: mucolipidosis type IV
Definition: A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Mucolipidosis_type_IV "DO" "DO", https://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv "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)
Saxo5 ISOSAXO5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mucolipidosis type IVPMID:11030752 PMID:11317355 PMID:28492532
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