Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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A | 0.700 | GeneticVariation | CLINVAR | A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. | 25349199 | 2015 |
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A | 0.700 | GeneticVariation | CLINVAR | Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation. | 26413278 | 2015 |
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A | 0.700 | GeneticVariation | CLINVAR | Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. | 24509478 | 2014 |
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A | 0.700 | GeneticVariation | CLINVAR | Genetic screening in adolescents with steroid-resistant nephrotic syndrome. | 23515051 | 2013 |
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A | 0.700 | GeneticVariation | CLINVAR | Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. | 20798252 | 2010 |
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A | 0.700 | GeneticVariation | CLINVAR | Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. | 19145239 | 2009 |
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|
A | 0.700 | GeneticVariation | CLINVAR | NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. | 12464671 | 2002 |