Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker BEFREE Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. 9063736

1997

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker BEFREE PHEX deficiency in XLH/Hyp dramatically alters the periodontal phenotype, with hypoplasia of tooth root cementum associated with a lack of periodontal ligament attachment and the presence of an immature apatitic mineral phase of all periodontal mineralized tissues. 28764922

2017

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker MGD X-linked hypophosphatemia is the most common of the phosphate-wasting disorders mediated by elevated fibroblast growth factor 23 (FGF23) and occurs as a consequence of inactivating mutations of the PHEX gene product. 23038738

2012

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker GENOMICS_ENGLAND XLH is associated with a large number of private mutations; 37 different mutations in the PHEX gene were identified in this cohort, 14 of which have not been previously reported. 29460029

2018

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 GeneticVariation BEFREE Our report identifies a novel nonsense mutation in the PHEX gene causing XLH. 20664300

2010

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 GeneticVariation BEFREE The aim of this study was to analyse 99 HYP families for PEX gene mutations, and to correlate predicted changes in the protein structure with Zn2+ metallopeptidase gene function. 9097956

1997

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 GeneticVariation UNIPROT In light of the variability in the clinical spectrum of X-linked hypophosphatemic rickets and the presence of a PHEX mutation in affected members of this kindred, we conclude that there is only one form of X-linked dominant phosphate wasting. 9768646

1998

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 GeneticVariation BEFREE In hypophosphatemic rickets, there are both inherited and acquired forms, where X-linked dominant hypophosphatemic rickets (XLH) is the most prevalent genetic form and caused by mutations in the phosphate-regulating endopeptidase (PHEX) gene. 18775977

2008

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker MGD The elevation of circulating fibroblast growth factor 23 without kidney disease does not increase cardiovascular disease risk. 29735309

2018

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 GeneticVariation BEFREE Seven young patients with X-linked hypophosphatemia (XLH, having inactivating PHEX mutations) were discovered to accumulate osteopontin (OPN) at the sites of defective bone mineralization near osteocytes - the so-called hallmark periosteocytic (lacunar) "halos" of XLH. 27884786

2017

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker BEFREE In summary, for the first time, we have successfully obtained PHEX KO rabbits and recapitulated human XLH using the CRISPR/Cas9 system. 27126636

2016

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker BEFREE PHEX, located at Xp22.1-p22.2, is the gene causing XLHR. 26559751

2016

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 GeneticVariation BEFREE Mutation at a locus (HPDR) on the X chromosome (McKusick 30780 [HPDR1]; 30781 [HPDR2]) causes impaired renal phosphate transport, hypophosphatemia, and an associated impairment in the process of mineralization in bone and teeth (X-linked hypophosphatemia [XLH]). 2155529

1990

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 GeneticVariation BEFREE Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets. 31102713

2019

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 GeneticVariation BEFREE Inactivating mutations in the gene encoding PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) have been found to be associated with XLH. 17406123

2007

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 GeneticVariation BEFREE PHEX mutations have been observed in XLH patients, and we have undertaken studies to characterize such mutations in 46 unrelated XLH kindreds and 22 unrelated patients with nonfamilial XLH by single stranded conformational polymorphism and DNA sequence analysis. 9768674

1998

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 GeneticVariation BEFREE Thus, defects in protein trafficking, endopeptidase activity, and protein conformation account for loss of PHEX function in XLH patients harboring these missense mutations. 12727977

2003

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 GeneticVariation BEFREE X-linked hypophosphatemia (XLH) caused by mutations in the Phex gene is the most common human inherited phosphate wasting disorder characterized by enhanced synthesis of fibroblast growth factor 23 (FGF23) in bone, renal phosphate wasting, 1,25(OH)<sub>2</sub>D<sub>3</sub> (1,25D) deficiency, rickets and osteomalacia. 28728941

2017

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker BEFREE Intragenic non-overlapping deletions from four different families and three mutations (two splice sites and one frameshift) have been detected in HYP patients, which suggest that the PEX gene is involved in the HYP disorder. 7550339

1995

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker GENOMICS_ENGLAND Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors. 31065622

2019

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 GeneticVariation BEFREE X-linked hypophosphatemia (XLH), due to a PHEX gene mutation, is the most common genetic form of rickets and osteomalacia. 30711691

2019

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker BEFREE This mutation can make the PHEX protein become unstable and decay rapidly, which results in familial XLHR. 31537998

2019

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 GeneticVariation BEFREE Although the entire PEX gene has not been identified and some mutations may have been missed, the lack of detection of mutations in the remaining 13 patients, especially in 1 patient who has an apparently balanced, de novo 9;13 translocation, implies that there may be other loci involved in the generation of the HYP phenotype. 9106524

1997

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker BEFREE To further explore the physiologic role of PEX and define its effect in XLH we have determined the expression and tissue distribution. 9070861

1997

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 CausalMutation CLINVAR Structure and function of disease-causing missense mutations in the PHEX gene. 12727977

2003