Disease: Rickets ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035579
Disease: Rickets
Rickets 		0.220 GeneticVariation disease BEFREE Sanger sequencing and multiplex ligand-dependent probe amplification analysis of PHEX and Sanger sequencing of FGF23, DMP1, ENPP1KL, and FAM20C were performed to assess genotype in patients with HH with or without rickets in all pediatric hospital departments across Norway. 26543054 2016
CUI: C0035579
Disease: Rickets
Rickets 		0.220 GeneticVariation disease BEFREE Our results demonstrate that mutations in FAM20C provide a putative new mechanism in human subjects leading to dysregulated FGF23 levels, hypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis of the long bones in the absence of rickets. 23325605 2013
CUI: C0035579
Disease: Rickets
Rickets 		0.220 Biomarker disease MGD