Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Recurrence of proteinuria 10 years post-transplant in NPHS2-associated focal segmental glomerulosclerosis after conversion from cyclosporin A to sirolimus. | 16721582 | 2006 |
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|
A | 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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|
A | 0.700 | CausalMutation | CLINVAR | Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. | 11805166 | 2002 |