Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs875989883
rs875989883
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
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
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
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
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
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: rs137853270
rs137853270
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247 2000
dbSNP: rs137853270
rs137853270
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991 2000
dbSNP: rs1556135308
rs1556135308
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991 2000
dbSNP: rs1556135308
rs1556135308
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247 2000
dbSNP: rs1556200989
rs1556200989
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247 2000
dbSNP: rs1556200989
rs1556200989
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991 2000
dbSNP: rs1556206403
rs1556206403
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247 2000
dbSNP: rs1556206403
rs1556206403
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991 2000
dbSNP: rs875989883
rs875989883
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247 2000
dbSNP: rs875989883
rs875989883
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991 2000
dbSNP: rs137853270
rs137853270
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		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
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		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
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		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: rs1556206403
rs1556206403
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		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: rs875989883
rs875989883
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		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
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 GeneticVariation UNIPROT Mutational analysis of PHEX gene in X-linked hypophosphatemia. 9768674 1998
dbSNP: rs137853270
rs137853270
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 GeneticVariation UNIPROT A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. 9768646 1998
dbSNP: rs1556135308
rs1556135308
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 GeneticVariation UNIPROT A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. 9768646 1998
dbSNP: rs1556135308
rs1556135308
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 GeneticVariation UNIPROT Mutational analysis of PHEX gene in X-linked hypophosphatemia. 9768674 1998
dbSNP: rs1556200989
rs1556200989
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 GeneticVariation UNIPROT Mutational analysis of PHEX gene in X-linked hypophosphatemia. 9768674 1998
dbSNP: rs1556200989
rs1556200989
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 GeneticVariation UNIPROT A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. 9768646 1998
dbSNP: rs1556206403
rs1556206403
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 GeneticVariation UNIPROT Mutational analysis of PHEX gene in X-linked hypophosphatemia. 9768674 1998