Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
0.800 GeneticVariation UNIPROT TRPC6 G757D Loss-of-Function Mutation Associates with FSGS. 26892346 2016
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
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
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
0.800 GeneticVariation UNIPROT New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis. 23291369 2013
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
0.800 GeneticVariation UNIPROT Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. 22732337 2012
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
0.800 GeneticVariation UNIPROT TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome. 21511817 2012
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
0.800 GeneticVariation UNIPROT TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype. 21734084 2011
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
0.800 GeneticVariation UNIPROT Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 20798252 2010
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
0.800 GeneticVariation UNIPROT TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis. 19458060 2009
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
0.800 GeneticVariation UNIPROT A novel TRPC6 mutation that causes childhood FSGS. 19936226 2009
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
0.800 GeneticVariation UNIPROT TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. 15924139 2005
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
0.800 GeneticVariation UNIPROT A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. 15879175 2005
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
0.800 CausalMutation CLINVAR