Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. | 23242530 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. | 18216321 | 2008 |
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|
C | 0.700 | CausalMutation | CLINVAR | Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis. | 18443213 | 2008 |
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|
C | 0.700 | CausalMutation | CLINVAR | NPHS2 mutation associated with recurrence of proteinuria after transplantation. | 15015071 | 2004 |
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|
C | 0.700 | CausalMutation | CLINVAR | Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. | 14978175 | 2004 |
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|
C | 0.700 | CausalMutation | CLINVAR | In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation. | 15327385 | 2004 |