Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
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 | Broadening the spectrum of diseases related to podocin mutations. | 12707396 | 2003 |
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T | 0.700 | CausalMutation | CLINVAR | Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations. | 14675423 | 2004 |
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|
T | 0.700 | CausalMutation | CLINVAR | NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. | 15253708 | 2004 |
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|
T | 0.700 | CausalMutation | CLINVAR | In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation. | 15327385 | 2004 |
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T | 0.700 | CausalMutation | CLINVAR | Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane. | 15496146 | 2004 |
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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 | A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. | 23595123 | 2013 |
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T | 0.700 | CausalMutation | CLINVAR | NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. | 24072147 | 2013 |