Gene: PHEX ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
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
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
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: rs137853269
rs137853269
PHEX
0.800 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247

2000
dbSNP: rs137853269
rs137853269
PHEX
0.800 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991

2000
dbSNP: rs137853270
rs137853270
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247

2000
dbSNP: rs137853270
rs137853270
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991

2000
dbSNP: rs1556014287
rs1556014287
PHEX
0.800 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247

2000
dbSNP: rs1556014287
rs1556014287
PHEX
0.800 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991

2000
dbSNP: rs1556091855
rs1556091855
PHEX
0.800 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247

2000
dbSNP: rs1556091855
rs1556091855
PHEX
0.800 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991

2000
dbSNP: rs1556135308
rs1556135308
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991

2000
dbSNP: rs1556135308
rs1556135308
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247

2000
dbSNP: rs1556200989
rs1556200989
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247

2000
dbSNP: rs1556200989
rs1556200989
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991

2000
dbSNP: rs1556206403
rs1556206403
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247

2000
dbSNP: rs1556206403
rs1556206403
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991

2000
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247

2000
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991

2000
dbSNP: rs137853269
rs137853269
PHEX
0.800 GeneticVariation UNIPROT Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. 10439971

1999
dbSNP: rs137853270
rs137853270
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. 10439971

1999
dbSNP: rs1556014287
rs1556014287
PHEX
0.800 GeneticVariation UNIPROT Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. 10439971

1999
dbSNP: rs1556091855
rs1556091855
PHEX
0.800 GeneticVariation UNIPROT Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. 10439971

1999
dbSNP: rs1556135308
rs1556135308
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. 10439971

1999
dbSNP: rs1556200989
rs1556200989
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. 10439971

1999