POTEF, POTE ankyrin domain family member F, 728378

N. diseases: 215; N. variants: 2
Disease: Vitamin D-Resistant Rickets, X-Linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3536984
Disease: Vitamin D-Resistant Rickets, X-Linked
Vitamin D-Resistant Rickets, X-Linked 		0.010 Biomarker disease 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