×
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
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
RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
22466703
2012
×
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
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
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
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
CLINVAR
King of hearts: a splicing factor rules cardiac proteins.
22561820
2012
×
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
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
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
Biomarker
group
HPO
×
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
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
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
RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
22466703
2012
×
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
CausalMutation
group
CLINVAR
Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.
20590677
2010