Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | TRPC6 G757D Loss-of-Function Mutation Associates with FSGS. | 26892346 | 2016 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. | 23014460 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis. | 23291369 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. | 22732337 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome. | 21511817 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype. | 21734084 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. | 20798252 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | A novel TRPC6 mutation that causes childhood FSGS. | 19936226 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis. | 19458060 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. | 15879175 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT | TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. | 15924139 | 2005 |
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|
T | 0.800 | CausalMutation | CLINVAR |