| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Cardiomyopathy, Dilated, 1DD
|
0.800 | CausalMutation | CLINVAR | Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. | 26084686 | 2015 | |||||
Cardiomyopathy, Dilated, 1DD
|
0.800 | CausalMutation | CLINVAR | The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. | 24503780 | 2014 | |||||
Cardiomyopathy, Dilated, 1DD
|
0.800 | CausalMutation | CLINVAR | Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. | 23861363 | 2013 | |||||
Cardiomyopathy, Dilated, 1DD
|
0.800 | CausalMutation | CLINVAR | Identification of nuclear retention domains in the RBM20 protein. | 23886709 | 2013 | |||||
Cardiomyopathy, Dilated, 1DD
|
0.800 | GeneticVariation | UNIPROT | Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. | 21846512 | 2012 | |||||
Cardiomyopathy, Dilated, 1DD
|
0.800 | GeneticVariation | UNIPROT | RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. | 22466703 | 2012 | |||||
Cardiomyopathy, Dilated, 1DD
|
0.800 | CausalMutation | CLINVAR | Rare variant mutations identified in pediatric patients with dilated cardiomyopathy. | 21483645 | 2011 | |||||
Cardiomyopathy, Dilated, 1DD
|
0.800 | CausalMutation | CLINVAR | Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. | 20590677 | 2010 | |||||
Cardiomyopathy, Dilated, 1DD
|
0.800 | GeneticVariation | CLINVAR | Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. | 20590677 | 2010 | |||||
Cardiomyopathy, Dilated, 1DD
|
0.800 | GeneticVariation | UNIPROT | Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. | 20590677 | 2010 | |||||
Cardiomyopathy, Dilated, 1DD
|
0.800 | CausalMutation | CLINVAR | Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. | 19712804 | 2009 | |||||
Cardiomyopathy, Dilated, 1DD
|
0.800 | GeneticVariation | CLINVAR | Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. | 19712804 | 2009 | |||||
Cardiomyopathy, Dilated, 1DD
|
0.800 | GeneticVariation | UNIPROT | Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. | 19712804 | 2009 | |||||
Cardiomyopathy, Dilated
|
0.700 | CausalMutation | CLINVAR | Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. | 23861363 | 2013 | |||||
Cardiomyopathy, Dilated
|
0.700 | CausalMutation | CLINVAR | Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. | 20590677 | 2010 | |||||
Cardiomyopathy, Dilated
|
0.700 | CausalMutation | CLINVAR | Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. | 19712804 | 2009 | |||||
Familial dilated cardiomyopathy
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Cardiomyopathies
|
0.700 | CausalMutation | CLINVAR |