Disease: Hyperphosphaturia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268079
Disease: Hyperphosphaturia
Hyperphosphaturia 		0.010 GeneticVariation phenotype BEFREE We present the identification of an inactivating mutation in the ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene causing autosomal-recessive hypophosphatemic rickets (ARHR) with phosphaturia by positional cloning. 20137772 2010