Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039584
rs886039584
PHEX
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.010 GeneticVariation BEFREE These data suggest that p.Trp403* may not function via an NMD mechanism, and instead causes XLH via a novel signaling mechanism involving PHEX, FGF23, and p38 MAPK. 30920082

2019
dbSNP: rs755686699
rs755686699
PHEX ; PTCHD1-AS
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		A 0.800 CausalMutation CLINVAR Secreted forms of wild-type and mutant PHEX proteins were generated by PCR mutagenesis; these included C85R, D237G, Y317F, G579R, G579V, S711R, A720T, and F731Y identified in XLH patients, and E581V, which in neutral endopeptidase 24.11 abolishes catalytic activity but not plasma membrane localization. 12727977

2003
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		A 0.800 CausalMutation CLINVAR Subsequently, by detection of already known mutation in the PHEX gene: c.1735G>A (p.G579R) (exon 17), XLHR was diagnosed. 24684036

2015
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		A 0.800 CausalMutation CLINVAR Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. 9199930

1997
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		C 0.800 CausalMutation CLINVAR

dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		A 0.800 CausalMutation CLINVAR Our data provide a mechanism for loss of PHEX function in XLH patients expressing the C85R, G579R and S711R mutations. 11468271

2001
dbSNP: rs1556206403
rs1556206403
PHEX ; PTCHD1-AS
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		C 0.800 CausalMutation CLINVAR

dbSNP: rs1556200989
rs1556200989
PHEX ; PTCHD1-AS
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1556135308
rs1556135308
PHEX ; PTCHD1-AS
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1556091855
rs1556091855
PHEX
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		C 0.800 CausalMutation CLINVAR

dbSNP: rs1556014287
rs1556014287
PHEX
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		C 0.800 CausalMutation CLINVAR

dbSNP: rs137853270
rs137853270
PHEX ; PTCHD1-AS
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		C 0.800 CausalMutation CLINVAR

dbSNP: rs137853269
rs137853269
PHEX
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		A 0.800 CausalMutation CLINVAR

dbSNP: rs886042234
rs886042234
PHEX
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs886042234
rs886042234
PHEX
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886041695
rs886041695
PHEX
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886041631
rs886041631
PHEX ; PTCHD1-AS
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		C 0.700 CausalMutation CLINVAR

dbSNP: rs886041374
rs886041374
PHEX ; PTCHD1-AS
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886041369
rs886041369
PHEX ; PTCHD1-AS
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886041367
rs886041367
PHEX ; PTCHD1-AS
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		ATGAT 0.700 CausalMutation CLINVAR

dbSNP: rs886041364
rs886041364
PHEX ; PTCHD1-AS
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		ATGAT 0.700 CausalMutation CLINVAR

dbSNP: rs886041363
rs886041363
PHEX
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886041361
rs886041361
PHEX
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		T 0.700 CausalMutation CLINVAR