Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children. | 25599733 | 2015 |
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T | 0.700 | GeneticVariation | CLINVAR | Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure. | 26138234 | 2015 |
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T | 0.700 | GeneticVariation | CLINVAR | Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. | 24509478 | 2014 |
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T | 0.700 | GeneticVariation | 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 | GeneticVariation | CLINVAR | Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. | 20947785 | 2011 |
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T | 0.700 | GeneticVariation | CLINVAR | Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. | 20798252 | 2010 |
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T | 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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T | 0.700 | GeneticVariation | CLINVAR | NPHS2 variation in focal and segmental glomerulosclerosis. | 18823551 | 2008 |
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T | 0.700 | GeneticVariation | CLINVAR | NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. | 12464671 | 2002 |