POTEF, POTE ankyrin domain family member F, 728378

N. diseases: 215; N. variants: 2
Disease: Hyperphosphaturia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268079
Disease: Hyperphosphaturia
Hyperphosphaturia 		0.010 Biomarker phenotype BEFREE Overexpression of human PHEX under the human beta-actin promoter in Hyp mice rescued the bone phenotype almost completely, but did not affect phosphate homeostasis, suggesting that different, possibly independent, pathophysiological mechanisms contribute to hyperphosphaturia and bone abnormalities in XLH. 15940367 2005