Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833874
rs386833874
NPHS1
0.800 GeneticVariation UNIPROT NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. 26560236

2016
dbSNP: rs386833874
rs386833874
NPHS1
A 0.800 GeneticVariation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199

2015
dbSNP: rs386833874
rs386833874
NPHS1
0.800 GeneticVariation UNIPROT SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. 25804400

2015
dbSNP: rs386833874
rs386833874
NPHS1
0.800 GeneticVariation UNIPROT A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 22565185

2012
dbSNP: rs386833874
rs386833874
NPHS1
0.800 GeneticVariation UNIPROT Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. 22732337

2012
dbSNP: rs386833874
rs386833874
NPHS1
0.800 GeneticVariation UNIPROT Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. 22009864

2011
dbSNP: rs386833874
rs386833874
NPHS1
0.800 GeneticVariation UNIPROT Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 20798252

2010
dbSNP: rs386833874
rs386833874
NPHS1
0.800 GeneticVariation UNIPROT Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). 20172850

2010
dbSNP: rs386833874
rs386833874
NPHS1
A 0.800 GeneticVariation CLINVAR Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). 20172850

2010
dbSNP: rs386833874
rs386833874
NPHS1
0.800 GeneticVariation UNIPROT Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012

2008
dbSNP: rs386833874
rs386833874
NPHS1
0.800 GeneticVariation UNIPROT Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 18614772

2008
dbSNP: rs386833874
rs386833874
NPHS1
0.800 GeneticVariation UNIPROT A familial childhood-onset relapsing nephrotic syndrome. 17290294

2007
dbSNP: rs386833874
rs386833874
NPHS1
0.800 GeneticVariation UNIPROT Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. 11726550

2001
dbSNP: rs386833874
rs386833874
NPHS1
0.800 GeneticVariation UNIPROT Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. 11317351

2001
dbSNP: rs386833874
rs386833874
NPHS1
0.800 GeneticVariation UNIPROT Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. 10652016

2000
dbSNP: rs386833874
rs386833874
NPHS1
0.800 GeneticVariation UNIPROT Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. 9915943

1999
dbSNP: rs386833874
rs386833874
NPHS1
0.800 GeneticVariation UNIPROT Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. 9660941

1998