Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Finnish congenital nephrotic syndrome
0.800 GeneticVariation disease BEFREE Mutations or deregulation of NPHS1 are associated with a variety of renal diseases, including the Finnish type congenital nephrotic syndrome. 15579507 2004
Finnish congenital nephrotic syndrome
0.800 GeneticVariation disease BEFREE Examination of the kidneys in one fetus showed tubular cysts at the corticomedullary junction and diffuse effacement of the epithelial foot processes and microvillous transformation of the renal podocytes, findings that were similar to those reported in congenital nephrotic syndrome, Finnish type, that is caused by mutations in nephrin (NPHS1). 25557780 2015
Finnish congenital nephrotic syndrome
0.800 GeneticVariation disease BEFREE We strongly recommend the use of mutation analysis of the NPHS1 gene to confirm the AFP results in prenatal diagnosis of NPHS1. 12047969 2002
Finnish congenital nephrotic syndrome
0.800 AlteredExpression disease BEFREE Here we show the characteristic splicing of NPHS1 mRNA in the normal and CNF kidneys and localize nephrin exclusively in the glomerulus and to the filtration slit area by light and immunoelectron microscopy. 10550324 1999
Finnish congenital nephrotic syndrome
0.800 GeneticVariation disease BEFREE Congenital nephrotic syndrome, Finnish type (CNF or NPHS1), is an autosomal recessive disease characterized by massive proteinuria and development of nephrotic syndrome shortly after birth. 11317351 2001
Finnish congenital nephrotic syndrome
0.800 GeneticVariation disease BEFREE In this study, we correlated the NPHS1 gene mutations to the clinical features and renal findings in 46 Finnish NPHS1 children. 10972661 2000
Finnish congenital nephrotic syndrome
0.800 GeneticVariation disease BEFREE Congenital nephrotic syndrome of the Finnish type (NPHS1) is a rare genetic disease caused by mutations in the NPHS1 gene encoding a major podocyte slit-diaphragm protein, nephrin. 16941028 2006
Finnish congenital nephrotic syndrome
0.800 GeneticVariation disease BEFREE We confirm an overlap in the NPHS1/NPHS2 mutation spectrum with the characterization of a unique di-genic inheritance of NPHS1 and NPHS2 mutations, which results in a 'tri-allelic' hit and appears to modify the phenotype from CNF to one of congenital focal segmental glomerulosclerosis (FSGS). 11854170 2002
Finnish congenital nephrotic syndrome
0.800 GeneticVariation disease BEFREE A subgroup of NTEC known as NTEC-2 produce a variant of CNF (CNF-2) whose gene is located on a plasmid known as Vir. 20060660 2010
Finnish congenital nephrotic syndrome
0.800 Biomarker disease BEFREE Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal recessive disorder that is caused by mutations in the recently discovered nephrin gene, NPHS1 (AF035835). 9915943 1999
Finnish congenital nephrotic syndrome
0.800 GeneticVariation disease CLINVAR A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. 23595123 2013
Finnish congenital nephrotic syndrome
0.800 GeneticVariation disease CLINVAR Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations. 28780565 2017
Finnish congenital nephrotic syndrome
0.800 GeneticVariation disease CLINVAR Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. 19812541 2009
Finnish congenital nephrotic syndrome
0.800 GeneticVariation disease CLINVAR Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. 22009864 2011
Finnish congenital nephrotic syndrome
0.800 CausalMutation disease CLINVAR Neutropenia in congenital nephrotic syndrome of the Finnish type: role of urinary ceruloplasmin loss. 19423745 2009
Finnish congenital nephrotic syndrome
0.800 GeneticVariation disease CLINVAR Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy. 23949594 2013
Finnish congenital nephrotic syndrome
0.800 GeneticVariation disease CLINVAR Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome. 25501161 2014
Finnish congenital nephrotic syndrome
0.800 CausalMutation disease CLINVAR Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity. 25407002 2015
Finnish congenital nephrotic syndrome
0.800 CausalMutation disease CLINVAR Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type. 16518627 2006
Finnish congenital nephrotic syndrome
0.800 CausalMutation disease CLINVAR Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome. 24742477 2014
Finnish congenital nephrotic syndrome
0.800 CausalMutation disease CLINVAR In the present study, the genomic structure of the nephrin gene was analyzed, and 35 NPHS1 patients were screened for the presence of mutations in the gene. 9915943 1999
Finnish congenital nephrotic syndrome
0.800 GeneticVariation disease CLINVAR Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years. 24902943 2014
Finnish congenital nephrotic syndrome
0.800 CausalMutation disease CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199 2015
Finnish congenital nephrotic syndrome
0.800 CausalMutation disease CLINVAR Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. 11726550 2001
Finnish congenital nephrotic syndrome
0.800 CausalMutation disease CLINVAR Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. 10577936 1999