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
0.160 GeneticVariation CLINVAR Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. 22004663

2012

Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.160 GeneticVariation CLINVAR RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. 22466703

2012

Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.160 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
0.160 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: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.160 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
0.160 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
0.160 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

2016

Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.160 GeneticVariation 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
0.160 CausalMutation CLINVAR RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. 22466703

2012

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

2010