| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Finnish congenital nephrotic syndrome
|
0.800 | GeneticVariation | UNIPROT | NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. | 26560236 | 2016 | |||||
Finnish congenital nephrotic syndrome
|
0.800 | GeneticVariation | UNIPROT | SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. | 25804400 | 2015 | |||||
Finnish congenital nephrotic syndrome
|
0.800 | GeneticVariation | UNIPROT | Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. | 22732337 | 2012 | |||||
Finnish congenital nephrotic syndrome
|
0.800 | GeneticVariation | UNIPROT | A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. | 22565185 | 2012 | |||||
Finnish congenital nephrotic syndrome
|
0.800 | GeneticVariation | UNIPROT | Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. | 22009864 | 2011 | |||||
Finnish congenital nephrotic syndrome
|
0.800 | GeneticVariation | UNIPROT | Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). | 20172850 | 2010 | |||||
Finnish congenital nephrotic syndrome
|
0.800 | GeneticVariation | UNIPROT | Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. | 20798252 | 2010 | |||||
Finnish congenital nephrotic syndrome
|
0.800 | GeneticVariation | UNIPROT | Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. | 18614772 | 2008 | |||||
Finnish congenital nephrotic syndrome
|
0.800 | GeneticVariation | UNIPROT | Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. | 18503012 | 2008 | |||||
Finnish congenital nephrotic syndrome
|
0.800 | GeneticVariation | UNIPROT | A familial childhood-onset relapsing nephrotic syndrome. | 17290294 | 2007 | |||||
Finnish congenital nephrotic syndrome
|
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 | |||||
Finnish congenital nephrotic syndrome
|
0.800 | GeneticVariation | UNIPROT | Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. | 11317351 | 2001 | |||||
Finnish congenital nephrotic syndrome
|
0.800 | GeneticVariation | UNIPROT | Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. | 10652016 | 2000 | |||||
Finnish congenital nephrotic syndrome
|
0.800 | GeneticVariation | UNIPROT | Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. | 9915943 | 1999 | |||||
Finnish congenital nephrotic syndrome
|
0.800 | GeneticVariation | UNIPROT | Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. | 9660941 | 1998 | |||||
Finnish congenital nephrotic syndrome
|
0.800 | GeneticVariation | CLINVAR | ||||||||
Steroid-resistant nephrotic syndrome
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Nephrotic range proteinuria
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Nephrosis, congenital
|
0.700 | GeneticVariation | CLINVAR |