Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | UNIPROT | NPHS2 mutations account for only 15% of nephrotic syndrome cases. | 26420286 | 2015 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | UNIPROT | NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. | 24227627 | 2014 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | UNIPROT | Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment. | 23913389 | 2013 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | UNIPROT | NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. | 23242530 | 2013 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | UNIPROT | NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. | 24072147 | 2013 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | UNIPROT | NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. | 23800802 | 2013 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | UNIPROT | A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. | 22565185 | 2012 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | UNIPROT | Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. | 22578956 | 2012 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | UNIPROT | Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. | 20947785 | 2011 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | UNIPROT | Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. | 20798252 | 2010 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | UNIPROT | NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. | 17899208 | 2007 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | UNIPROT | NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. | 15253708 | 2004 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | UNIPROT | NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. | 12464671 | 2002 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | UNIPROT | NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. | 10742096 | 2000 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | CausalMutation | CLINVAR | ||||||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | CLINVAR |