Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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T | 0.700 | CausalMutation | CLINVAR | Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome. | 29382718 | 2018 |
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T | 0.700 | CausalMutation | CLINVAR | A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. | 25349199 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis. | 24500309 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. | 24227627 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family. | 25852895 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. | 24856380 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. | 23242530 | 2013 |
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T | 0.700 | CausalMutation | CLINVAR | Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. | 19406966 | 2009 |
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T | 0.700 | CausalMutation | CLINVAR | Intracellular mislocalization of mutant podocin and correction by chemical chaperones. | 12649741 | 2003 |
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T | 0.700 | CausalMutation | CLINVAR | Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. | 11854170 | 2002 |
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T | 0.700 | CausalMutation | CLINVAR | Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. | 11729243 | 2001 |
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T | 0.700 | CausalMutation | CLINVAR | NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. | 10742096 | 2000 |