Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.700 GeneticVariation CLINVAR A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism. 27496873

2016
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.700 CausalMutation CLINVAR Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells. 26604136

2016
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.700 CausalMutation CLINVAR Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. 26084686

2015
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.700 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.700 CausalMutation CLINVAR Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. 23861363

2013
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.700 CausalMutation CLINVAR Identification of nuclear retention domains in the RBM20 protein. 23886709

2013
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.700 CausalMutation CLINVAR Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. 22004663

2012
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.700 CausalMutation CLINVAR RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. 22466703

2012
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.700 CausalMutation CLINVAR Rare variant mutations identified in pediatric patients with dilated cardiomyopathy. 21483645

2011
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.700 GeneticVariation CLINVAR Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. 20590677

2010
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.700 CausalMutation CLINVAR Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. 20590677

2010
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.700 GeneticVariation CLINVAR Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 19712804

2009
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.700 CausalMutation CLINVAR Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 19712804

2009
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.700 CausalMutation CLINVAR [Successful mitral valve replacement for infective endocarditis in pregnancy]. 2204663

1990