Disease: Rickets, X-Linked Hypophosphatemic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 Biomarker disease MGD Malabsorption of phosphate by the intestines of young X-linked hypophosphatemic mice. 3145795 1988
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 Biomarker disease CTD_human These results imply that the Hyp gene is expressed in situ in renal epithelium and suggest that humoral factors are not necessary for the mutant renal phenotype in X-linked hypophosphatemia of mouse and man. 3414685 1988
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 GeneticVariation disease 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
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 GeneticVariation disease BEFREE Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. 9106524 1997
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 Biomarker disease BEFREE Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. 9063736 1997
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 AlteredExpression disease BEFREE We conclude that Pex/PEX is a low-abundance transcript that is expressed predominantly in bone of mice and humans and that a large deletion in the 3' region of the Pex gene is present in the murine Hyp homologue of X-linked hypophosphatemia. 9077527 1997
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 GeneticVariation disease BEFREE Two mouse mutations gyro (Gy) and hypophosphatemia (Hyp) are mouse models for X-linked hypophosphatemic rickets and have been shown to be deleted for the 5' and 3' end of the mouse homolog of PHEX (phosphate regulating gene with homologies to endopeptidases on the X chromosome; formerly called PEX), respectively. 9467015 1998
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 GeneticVariation disease BEFREE Mutations in the PEX gene are responsible for X-linked hypophosphatemic rickets. 9593714 1998
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 GeneticVariation disease BEFREE Mutational analysis of PHEX gene in X-linked hypophosphatemia. 9768674 1998
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 GeneticVariation disease BEFREE 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
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 AlteredExpression disease BEFREE PHEX expression in parathyroid gland and parathyroid hormone dysregulation in X-linked hypophosphatemia. 10460513 1999
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 GeneticVariation disease BEFREE Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247 2000
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 GeneticVariation disease BEFREE The mammalian neprilysin (NEP) family comprises at least seven members: NEP itself, Kell blood group antigen (KELL), the endothelin-converting enzymes (ECE-1 and ECE-2), the enzyme PEX, associated with X-linked hypophosphataemia, "X-converting enzyme" (XCE) a CNS-expressed orphan peptidase and a soluble, secreted endopeptidase (SEP). 10849750 2000
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 GeneticVariation disease BEFREE The cell line did express PHEX (phosphate-regulating gene with homologies to endopeptidases located on the X-chromosome) and FGF-23 (fibroblast growth factor-23) transcripts on northern hybridization; however, none of the known mutations from the related mendelian disorders of X-linked hypophosphatemic rickets or autosomal-dominant hypophosphatemic rickets could be detected. 11595624 2001
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 PosttranslationalModification disease BEFREE Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. 11502829 2001
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 Biomarker disease BEFREE This represents the first report of PHEX pseudoexons and reveals further the diversity of genetic abnormalities causing X-linked hypophosphatemia. 11502821 2001
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 Biomarker disease MGD Osteomalacia in hyp mice is associated with abnormal phex expression and with altered bone matrix protein expression and deposition. 11159866 2001
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 Biomarker disease CTD_human Mepe, the gene encoding a tumor-secreted protein in oncogenic hypophosphatemic osteomalacia, is expressed in bone. 11414762 2001
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 Biomarker disease MGD An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets. 12414538 2002
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 GeneticVariation disease BEFREE Mutations in the PHEX gene are responsible for X-linked hypophosphataemia in humans. 12678920 2003
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 Biomarker disease MGD New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice. 15029877 2004
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 Biomarker disease MGD Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice. 14751570 2004
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 Biomarker disease MGD Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes. 15976027 2005
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 GeneticVariation disease BEFREE Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets. 16636593 2006
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		0.600 GeneticVariation disease BEFREE Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait. 16303832 2006