Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Idiopathic Nephrotic Syndrome
|
0.800 | CausalMutation | CLINVAR | Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. | 24856380 | 2014 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | CausalMutation | CLINVAR | Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome. | 24742477 | 2014 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | CausalMutation | CLINVAR | Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population. | 23645318 | 2013 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | CausalMutation | CLINVAR | NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. | 23242530 | 2013 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | CLINVAR | NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. | 23242530 | 2013 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | CausalMutation | CLINVAR | Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. | 22578956 | 2012 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | CLINVAR | Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. | 22578956 | 2012 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | CLINVAR | Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation. | 21171529 | 2010 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | CausalMutation | CLINVAR | Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation. | 21171529 | 2010 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | CausalMutation | CLINVAR | Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. | 18216321 | 2008 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | CausalMutation | CLINVAR | NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. | 17899208 | 2007 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | CLINVAR | Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. | 11805166 | 2002 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | CausalMutation | CLINVAR | Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. | 11805166 | 2002 | |||||
Idiopathic Nephrotic Syndrome
|
0.800 | GeneticVariation | UNIPROT |