Disease: Hypophosphatemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.030 GeneticVariation phenotype BEFREE Early onset conductive hearing loss may further distinguish the autosomal recessive ENPP1 related type from other types of hypophosphatemia. 25741938 2015
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.030 GeneticVariation phenotype BEFREE Postzygotic mutations in HRAS lead to elevation of FGF23 levels, as found in mutated PHEX, FGF23, DMP1, and ENPP1 genes, which lead to hypophosphatemia. 24243633 2014
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.030 Biomarker phenotype BEFREE Recent findings have also linked hypophosphataemia to a lack of NPP1 function. 22842219 2012