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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: DOID:0050445
Term: X-linked dominant hypophosphatemic rickets
Definition: A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/X-linked_hypophosphatemia "DO" "DO", https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia "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)
FAM20C IEP 11560488RGDmRNA:increased expression:long bone, osteoblast, osteocyte (mouse) 
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