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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:0000212
Term: Gingival overgrowth
Definition: Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Definition Source(s): PMID:19125428
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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