Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.140 Biomarker disease BEFREE Genotyping for TRPC6, ACTN4, CD2AP, WT1, INF2, NPHS2 and NPHS1 was performed in all patients with primary FSGS and ESRD registered on the waiting list for kidney transplantation of a large German transplant center (n = 26 out of 478 registered patients). 22732337 2012
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.140 GeneticVariation disease BEFREE We present a 12-year-old girl with rapidly progressive FSGS and end-stage renal disease in her native kidneys associated with heterozygous mutations in NPHS1 and in NPHS2, suffering from early post-transplant recurrence. 27312921 2016
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.140 GeneticVariation disease BEFREE Mutations of NPHS1 or NPHS2, the genes encoding for nephrin and podocin, lead to early onset of heavy proteinuria, and rapid progression to end-stage renal disease, suggesting that both proteins are essential for the integrity of the glomerular filter. 14570703 2003
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.140 GeneticVariation disease BEFREE Mutations of NPHS1, NPHS2, or WT1 may be responsible for severe forms of nephrotic syndrome in children, progressing to end-stage renal failure. 15503167 2004
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.140 GeneticVariation disease GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018