Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.420 CausalMutation 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

2017

Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.420 GeneticVariation 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: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.420 CausalMutation CLINVAR Whole exome sequencing of remotely related dilated cardiomyopathy subjects from a large, multiplex family, followed by systematic filtering, identified a causal RBM20 mutation without the need for linkage analysis. 23861363

2014

Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.420 GeneticVariation CLINVAR Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. 22004663

2013

Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.420 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.420 CausalMutation CLINVAR Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. 22004663

2013

Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.420 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.420 GeneticVariation CLINVAR King of hearts: a splicing factor rules cardiac proteins. 22561820

2012

Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.420 CausalMutation CLINVAR The phenotype of Rbm20-deficient rats resembled the pathology seen in individuals with dilated cardiomyopathy caused by RBM20 mutations. 22466703

2012

Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.420 GeneticVariation CLINVAR The phenotype of Rbm20-deficient rats resembled the pathology seen in individuals with dilated cardiomyopathy caused by RBM20 mutations. 22466703

2012

Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.420 CausalMutation CLINVAR Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. 20590677

2010

Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.420 CausalMutation CLINVAR Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 19712804

2009

Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.420 GeneticVariation CLINVAR Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 19712804

2009