Disease: Familial Hypophosphatemic Rickets ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE X-linked dominant hypophosphatemic rickets (XLHR) is the most prevalent genetic type of hypophosphatemic rickets and is caused by germ line mutations in the PHEX-gene. 23466123 2013
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE WES revealed a novel PHEX splice acceptor mutation in intron 9 (c.1080-3C>A) in a family with 3 affected individuals with HR. 26107949 2015
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE We report 3 cases of hypophosphatemic rickets with genetic mutational analysis of the PHEX gene. 21553362 2011
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE We investigated PHEX mutation in a sporadic Turkish girl with hypophosphatemic rickets. 25153221 2015
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE This leads to the question whether current screening methods for mutations in the PHEX gene are inadequate or whether there is a substantial number of patients with other genetic causes of hypophosphatemic rickets. 22577109 2012
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE These data extend the spectrum of mutations in the PHEX gene in Han Chinese and confirm variability for XLH in Taiwan. 21293852 2011
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE The study shows that PHEX mutation is a common cause of either familial or sporadic hypophosphatemic rickets in Turkish population.Gene dosage effect is not observed. 23079138 2013
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE The most common heritable disorder of renal phosphate wasting, X-linked hypophosphataemia (XLH), was discovered to be caused by inactivating mutations in the phosphate regulating gene with homology to endopeptidases on the X-chromosome (PHEX) gene in 1995. 30207609 2019
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE The most common form of HR is X-linked dominant HR (XLHR) which is caused by inactivating mutations in the PHEX gene. 21902834 2011
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE The PHEX mutations were detected in 6 familial and 3 sporadic hypophosphatemic rickets/osteomalacia. 24836714 2014
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets. 27840894 2016
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE Recently, the expression of the PHEX gene in hypertrophied parathyroid glands of a patient with XLH has been reported. 15015068 2004
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 Biomarker disease CTD_human Primary cultures of renal epithelial cells from X-linked hypophosphatemic (Hyp) mice express defects in phosphate transport and vitamin D metabolism. 3414685 1988
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 AlteredExpression disease BEFREE Overexpression of human PHEX under the human beta-actin promoter in Hyp mice rescued the bone phenotype almost completely, but did not affect phosphate homeostasis, suggesting that different, possibly independent, pathophysiological mechanisms contribute to hyperphosphaturia and bone abnormalities in XLH. 15940367 2005
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE Our data highlight the wide spectrum of genetic variation that can be seen in PHEX, FGF23 and DMP1 when screening a large cohort with hypophosphatemic rickets. 21050253 2011
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets. 25839938 2015
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE Novel PHEX mutation associated with hypophosphatemic rickets. 17406123 2007
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease LHGDN Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene. 18252791 2008
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five novel mutations, in nine patients: two nonsense mutations, two missense mutations, one insertion, and three splicing acceptor/donor site mutations. 18162710 2007
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 Biomarker disease CTD_human Mepe, the gene encoding a tumor-secreted protein in oncogenic hypophosphatemic osteomalacia, is expressed in bone. 11414762 2001
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE It confirms that mutations in PHEX are the most frequent cause of HR. 26051471 2015
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease 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
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 Biomarker disease CTD_human 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
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991 2000
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.500 GeneticVariation disease BEFREE Human disorders of phosphate (Pi) handling and hypophosphatemic rickets have been shown to result from mutations in PHEX, FGF23, and DMP1, presenting as X-linked recessive, autosomal-dominant, and autosomal-recessive patterns, respectively. 20137772 2010