|
rs11646213
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
0.010 |
GeneticVariation
|
BEFREE |
The associations between rs11646213 and three BP traits were replicated in combined analyses (dominant model: DBP, P = 5.55 x 10(-5), effect -1.40 mmHg; SBP, P = 0.007, effect -1.56 mmHg; HYP, P = 5.30 x 10(-8), OR = 0.67).
|
19304780 |
2009 |
|
rs116548533
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
0.010 |
GeneticVariation
|
BEFREE |
Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia.
|
29127362 |
2017 |
|
rs121909796
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
0.010 |
GeneticVariation
|
BEFREE |
Novel screening system for high-affinity ligand of heredity vitamin D-resistant rickets-associated vitamin D receptor mutant R274L using bioluminescent sensor.
|
27864003 |
2017 |
|
rs121909800
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
0.010 |
GeneticVariation
|
BEFREE |
Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3.
|
16753019 |
2006 |
|
rs139280106
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
0.010 |
GeneticVariation
|
BEFREE |
Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3.
|
16753019 |
2006 |
|
rs377423996
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
0.010 |
GeneticVariation
|
BEFREE |
Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia.
|
29127362 |
2017 |
|
rs755686699
|
|
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 |
|
rs780229030
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
0.010 |
GeneticVariation
|
BEFREE |
Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3.
|
16753019 |
2006 |
|
rs797044787
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
0.010 |
GeneticVariation
|
BEFREE |
A C924T mutation can be disease causing for XLH, and the detection of this mutation would aid in genetic counseling for the prenatal diagnosis of XLH.
|
25039760 |
2014 |
|
rs886039584
|
|
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 |
|
rs1057517980
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.
|
10737991 |
2000 |
|
rs1057517980
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.
|
11004247 |
2000 |
|
rs1057517980
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.
|
10439971 |
1999 |
|
rs1057517980
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
0.700 |
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 |
|
rs1057517980
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutational analysis of PHEX gene in X-linked hypophosphatemia.
|
9768674 |
1998 |
|
rs1057517980
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
|
9106524 |
1997 |
|
rs1057517980
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).
|
9097956 |
1997 |
|
rs1057517980
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.
|
9199930 |
1997 |
|
rs1057517981
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1057521800
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs1064793956
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1064796928
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1085308012
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1131691731
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1240767654
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|