Gene: RBM20 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 282996
Gene Symbol: RBM20
RBM20 		0.160 GeneticVariation group BEFREE Pathogenic RBM20-Variants Are Associated With a Severe Disease Expression in Male Patients With Dilated Cardiomyopathy. 30871348 2019
Entrez Id: 282996
Gene Symbol: RBM20
RBM20 		0.160 GeneticVariation group BEFREE Clinical exome sequencing revealed I536T-RBM20 variant, which alters RNA splicing of TTN and is causative for dilated cardiomyopathy. 31419596 2019
Entrez Id: 282996
Gene Symbol: RBM20
RBM20 		0.160 GeneticVariation group BEFREE Further, these characteristics were more prevalent in the RBM20 registry than in large cohorts of patients with dilated cardiomyopathy and TTNtv cardiomyopathy and not significantly different from a cohort of patients with LMNA-associated cardiomyopathy. 30871351 2019
Entrez Id: 282996
Gene Symbol: RBM20
RBM20 		0.160 GeneticVariation group BEFREE Mutations in RBM20 (RNA-binding motif protein 20) cause a clinically aggressive form of dilated cardiomyopathy, with an increased risk of malignant ventricular arrhythmias. 29650543 2018
Entrez Id: 282996
Gene Symbol: RBM20
RBM20 		0.160 GeneticVariation group BEFREE 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 		0.160 GeneticVariation group 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 		0.160 Biomarker group BEFREE This review aims to summarize the current knowledge of RBM20-related dilated cardiomyopathy and heart failure as well as the underlying mechanism. 27396593 2016
Entrez Id: 282996
Gene Symbol: RBM20
RBM20 		0.160 CausalMutation group 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 		0.160 CausalMutation group 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 		0.160 GeneticVariation group CLINVAR Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. 22004663 2012
Entrez Id: 282996
Gene Symbol: RBM20
RBM20 		0.160 GeneticVariation group CLINVAR RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. 22466703 2012
Entrez Id: 282996
Gene Symbol: RBM20
RBM20 		0.160 CausalMutation group CLINVAR Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. 22004663 2012
Entrez Id: 282996
Gene Symbol: RBM20
RBM20 		0.160 GeneticVariation group CLINVAR King of hearts: a splicing factor rules cardiac proteins. 22561820 2012
Entrez Id: 282996
Gene Symbol: RBM20
RBM20 		0.160 CausalMutation group CLINVAR RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. 22466703 2012
Entrez Id: 282996
Gene Symbol: RBM20
RBM20 		0.160 GeneticVariation group CLINVAR Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. 20590677 2010
Entrez Id: 282996
Gene Symbol: RBM20
RBM20 		0.160 CausalMutation group CLINVAR Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. 20590677 2010
Entrez Id: 282996
Gene Symbol: RBM20
RBM20 		0.160 CausalMutation group CLINVAR Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 19712804 2009
Entrez Id: 282996
Gene Symbol: RBM20
RBM20 		0.160 GeneticVariation group CLINVAR Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 19712804 2009
Entrez Id: 282996
Gene Symbol: RBM20
RBM20 		0.160 Biomarker group HPO