RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.
28377241
2017
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
29018006
2017
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.
28082092
2017
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease.
28430823
2017
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy.
27554049
2017
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.
27931613
2016
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.
27595546
2016
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
[Genetic and clinical study of three Chinese pedigrees with Fabry disease].
23568732
2013
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Interpreting secondary cardiac disease variants in an exome cohort.
23861362
2013
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.
23109060
2013
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.
22437327
2012
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).
21972175
2012
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
21598360
2011
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.
21167350
2011
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland.
21332051
2011
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Transposable elements in disease-associated cryptic exons.
19823873
2010
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A).
20821055
2010
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.
20031620
2009
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).
19621417
2009
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
GeneticVariation
CLINVAR
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
17555407
2007
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
17555407
2007
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.
17655857
2007
RPL36A-HNRNPH2
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.
15702404
2005
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
[Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area].
16235537
2005