Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | 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 |
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T | 0.700 | CausalMutation | CLINVAR | NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. | 23242530 | 2013 |
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T | 0.700 | GeneticVariation | CLINVAR | NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. | 23242530 | 2013 |
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T | 0.700 | CausalMutation | CLINVAR | Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. | 11805166 | 2002 |
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T | 0.700 | CausalMutation | CLINVAR | NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. | 17899208 | 2007 |
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T | 0.700 | CausalMutation | CLINVAR | Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. | 18216321 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. | 22578956 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. | 11805166 | 2002 |
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T | 0.700 | CausalMutation | CLINVAR | Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population. | 23645318 | 2013 |
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T | 0.700 | CausalMutation | CLINVAR | Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation. | 21171529 | 2010 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. | 22578956 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation. | 21171529 | 2010 |