Disease: Hypophosphatemic Rickets, X-Linked Dominant ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs755686699
rs755686699
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.010 GeneticVariation BEFREE Three different novel mutations were observed in these three families: one deletion mutation c.264delG causing p.W88 X; one missense mutation c.1673C>G causing p.P558A; one nonsense mutation c.1809G>A causing p.W603 X. Serum concentration of FGF23 in XLH patients of these three families was significantly higher than normal. 18046499 2007