Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.470 CausalMutation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.470 CausalMutation disease CLINVAR A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. 24691700 2015
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.470 CausalMutation disease CLINVAR Interpreting secondary cardiac disease variants in an exome cohort. 23861362 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.470 GeneticVariation disease CLINVAR Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation. 23956225 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.470 CausalMutation disease CLINVAR Prenatal ultrasound diagnosis of MYH7 non-compaction cardiomyopathy. 22859017 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.470 CausalMutation disease CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770 2012
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.470 CausalMutation disease CLINVAR Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 21551322 2011
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.470 CausalMutation disease CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275 2011
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.470 GeneticVariation disease CLINVAR Mutations in the sarcomere gene MYH7 in Ebstein anomaly. 21127202 2011
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.470 GeneticVariation disease CLINVAR Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. 20031619 2009
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.470 CausalMutation disease CLINVAR Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. 20031619 2009
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.470 CausalMutation disease CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004 2008
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.470 CausalMutation disease CLINVAR Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 18258667 2008
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.470 CausalMutation disease CLINVAR Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene. 18159245 2007
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.430 CausalMutation disease CLINVAR Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. 20031619 2009
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.430 GeneticVariation disease CLINVAR
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.410 GeneticVariation disease CLINVAR Familial left ventricular noncompaction associated with a novel mutation in the alpha-cardiac actin gene. 25201647 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.410 GeneticVariation disease CLINVAR
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.410 CausalMutation disease CLINVAR
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.120 SusceptibilityMutation disease CLINVAR
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		0.100 CausalMutation disease CLINVAR MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. 27799064 2016
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 7414
Gene Symbol: VCL
VCL 		0.100 GeneticVariation disease CLINVAR