Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia
0.140 AlteredExpression phenotype BEFREE These findings indicate that inactivation of Fam20C in cells expressing type I collagen led to skeletal defects and hypophosphatemia. 28620244 2017
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia
0.140 GeneticVariation phenotype 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: C0085682
Disease: Hypophosphatemia
Hypophosphatemia
0.140 GeneticVariation phenotype BEFREE Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia. 25026495 2014
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia
0.140 GeneticVariation phenotype BEFREE Using whole exome sequencing we identified compound heterozygous mutations in family with sequence similarity 20, member C (FAM20C) in two siblings referred for hypophosphatemia and severe dental demineralization disease. 23325605 2013
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia
0.140 Biomarker phenotype HPO