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 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 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 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 Hypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in the PHEX, FGF23, DMP1, ENPP1, CLCN5, SLC9A3R1, SLC34A1 or SLC34A3. 31821448 2019
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 PHEX mutations have been observed in 60-80% of hypophosphatemic rickets patients. 15818436 2005
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 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 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 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
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 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 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 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