Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
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 | NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms. | 15817495 | 2005 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children. | 15769810 | 2005 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations. | 14675423 | 2004 |
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|
A | 0.700 | GeneticVariation | CLINVAR | In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation. | 15327385 | 2004 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane. | 15496146 | 2004 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. | 14978175 | 2004 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. | 11805166 | 2002 |
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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 |
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|
A | 0.700 | GeneticVariation | CLINVAR | NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. | 10742096 | 2000 |
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|
A | 0.700 | CausalMutation | CLINVAR |