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GENE - TERM ANNOTATION REPORT

RGD ID: 1323719
Species: Homo sapiens
RGD Object: Gene
Symbol: FAM20C
Name: FAM20C golgi associated secretory pathway kinase
Acc ID: HP:0000520
Term: Proptosis
Definition: An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Definition Source(s): https://orcid.org/0009-0006-4530-3154, PMID:19125427
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)
FAM20C IAGP 11560491RGDDNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) 
FAM20C IAGP 8699517HPO OMIM:259775
FAM20C IAGP 8699517HPO ORPHA:1832
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