Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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CA | 0.700 | CausalMutation | CLINVAR | A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome. | 20001346 | 2009 |
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CA | 0.700 | CausalMutation | CLINVAR | R168H and V165X mutant podocin might induce different degrees of podocyte injury via different molecular mechanisms. | 19674119 | 2009 |
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CA | 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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CA | 0.700 | CausalMutation | CLINVAR | A novel mutation of NPHS2 identified in a Chinese family. | 15322893 | 2004 |
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CA | 0.700 | CausalMutation | CLINVAR | Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. | 14978175 | 2004 |