Disease: Rickets, X-Linked Hypophosphatemic ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039584
rs886039584
Entrez Id: 5251
Gene Symbol: PHEX
PHEX
CUI: C3540852
Disease:
Rickets, X-Linked Hypophosphatemic 		0.010 GeneticVariation BEFREE Identification of a p.Trp403* nonsense variant in PHEX causing X-linked hypophosphatemia by inhibiting p38 MAPK signaling. 30920082 2019