Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
0.110 GeneticVariation disease CLINVAR Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. 28893421 2018
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
0.110 Biomarker disease BEFREE Primary hyperoxaluria type 2 should be considered in patients at adult stone clinics who have had a history of nephrolithiasis since childhood, especially in those with consanguineous parents. 19296982 2009
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
0.110 Biomarker disease HPO