Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Steroid-resistant nephrotic syndrome
0.200 GeneticVariation disease CLINVAR
Steroid-resistant nephrotic syndrome
0.200 GeneticVariation disease BEFREE Familial forms of focal segmental glomerulosclerosis (FSGS) are caused by mutations in genes at 1q25-31 (gene for steroid-resistant nephrotic syndrome 2 [NPHS2]), 11q21-22, 19q13 (gene for alpha-actinin 4 and NPHS1), and at additional unidentified chromosomal loci. 12776268 2003
Steroid-resistant nephrotic syndrome
0.200 Biomarker disease BEFREE Genomic DNA samples from Polish children (n=33) with Steroid-Resistant Nephrotic Syndrome (SRNS) due to focal segmental glomerulosclerosis (FSGS), manifesting before the age of 13 years old, underwent retrospective analysis of NPHS1, NPHS2, WT1 (exons 8, 9 and adjacent exon/intron boundaries) and LAMB2. 24856380 2014
Steroid-resistant nephrotic syndrome
0.200 GeneticVariation disease BEFREE Most often this occurred in the three most common SRNS-associated genes: NPHS1, NPHS2, and WT1 but also in 14 other genes. 28117080 2017
Steroid-resistant nephrotic syndrome
0.200 Biomarker disease BEFREE Recent studies have demonstrated that mutations in 4 podocyte genes, NPHS1, NPHS2, CD2AP, and WT1, are associated with the pathogenesis of steroid-resistant nephrotic syndrome (SRNS). 25501161 2014
Steroid-resistant nephrotic syndrome
0.200 GeneticVariation disease BEFREE Recently, NPHS1 mutations have also been identified in childhood-onset steroid-resistant nephrotic syndrome and milder courses of disease, but their role in adults with focal segmental glomerulosclerosis remains unknown. 19812541 2009
Steroid-resistant nephrotic syndrome
0.200 Biomarker disease BEFREE The DNA samples were first analysed by Sanger sequencing (genes NPHS2, NPHS1, and WT1) and then by next generation sequencing (NGS) using a targeted panel of 48 genes previously associated with SRNS. 29869118 2018
Steroid-resistant nephrotic syndrome
0.200 GeneticVariation disease BEFREE The levels of Podocin, the gene mutated in autosomal recessive steroid-resistant nephrotic syndrome (NPHS2), and Nephrin, the gene mutated in congenital nephrotic syndrome of the Finnish type (NPHS1), are slightly reduced in kr(enu)/kr(enu) podocytes. 12217315 2002
Steroid-resistant nephrotic syndrome
0.200 GeneticVariation disease BEFREE The most common mutated genes were ADCK4 (6.67%), NPHS1 (5.83%), WT1 (5.83%), and NPHS2 (3.33%), and the difference in the frequencies of ADCK4 and NPHS2 mutations between this study and a study on monogenic causes of SRNS in the largest international cohort of 1,783 different families was significant. 28204945 2017
Steroid-resistant nephrotic syndrome
0.200 GeneticVariation disease BEFREE The overall mutation detection rate was high at 57% (97% in CNS and 41% in SRNS); 85% of all mutations were identified by the analysis of three single genes only (NPHS1, NPHS2, and WT1), accounting for 92% of all mutations in patients with CNS and 79% of all mutations in patients with SRNS. 26668027 2016
Steroid-resistant nephrotic syndrome
0.200 GeneticVariation disease BEFREE Whether NPHS1 mutations similarly account for some cases of childhood steroid-resistant nephrotic syndrome is unknown. 18614772 2008