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 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 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 MGD It is known that XLH in humans and in certain mouse models is caused by inactivating mutations in PHEX/Phex (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). 22573557

2012

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker MGD New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis. 22527485

2012

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker MGD A search for such a model led us to the Phex Hyp-Duk mouse, a mutant allele of the Phex gene causing X-linked hypophosphatemic rickets. 18289812

2008

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker MGD A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice. 17710565

2008

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker MGD Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes. 15976027

2005

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker MGD X-linked hypophosphatemia (XLH) is characterized by rickets and osteomalacia and arises from mutations in the Phex and PHEX genes in mice (Hyp) and humans, respectively. 14751570

2004

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker MGD New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice. 15029877

2004

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker MGD An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets. 12414538

2002

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker MGD Osteomalacia in hyp mice is associated with abnormal phex expression and with altered bone matrix protein expression and deposition. 11159866

2001

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker MGD Malabsorption of phosphate by the intestines of young X-linked hypophosphatemic mice. 3145795

1988