Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5350
Gene Symbol: PLN
PLN 		0.700 CausalMutation group CLINVAR Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. 23785128 2013
Entrez Id: 5350
Gene Symbol: PLN
PLN 		0.700 CausalMutation group CLINVAR Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. 22820313 2012
Entrez Id: 5350
Gene Symbol: PLN
PLN 		0.700 CausalMutation group CLINVAR Thus, by chronic suppression of sarcoplasmic reticulum Ca(2+)-ATPase activity, the nonreversible superinhibitory function of mutant PLN-R14Del may lead to inherited dilated cardiomyopathy and premature death in both humans and mice. 16432188 2006
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.700 GeneticVariation group CLINVAR
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.700 CausalMutation group CLINVAR
Entrez Id: 5350
Gene Symbol: PLN
PLN 		0.700 GeneticVariation group CLINVAR
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.700 GeneticVariation group CLINVAR
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.700 GeneticVariation group CLINVAR
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.700 CausalMutation group CLINVAR
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.690 CausalMutation group CLINVAR
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.690 GeneticVariation group CLINVAR
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.500 CausalMutation group CLINVAR Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. 27435932 2016
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2 		0.500 GeneticVariation group CLINVAR Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish. 23992123 2014
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.500 GeneticVariation group CLINVAR Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. 19924139 2010
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2 		0.500 GeneticVariation group CLINVAR Glycogen storage diseases presenting as hypertrophic cardiomyopathy. 15673802 2005
Entrez Id: 2010
Gene Symbol: EMD
EMD 		0.500 GeneticVariation group CLINVAR
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.500 GeneticVariation group CLINVAR
Entrez Id: 7276
Gene Symbol: TTR
TTR 		0.500 CausalMutation group CLINVAR
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB 		0.500 GeneticVariation group CLINVAR
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		0.500 CausalMutation group CLINVAR
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.500 CausalMutation group CLINVAR
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.500 CausalMutation group CLINVAR
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2 		0.500 CausalMutation group CLINVAR
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.500 GeneticVariation group CLINVAR
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		0.500 GeneticVariation group CLINVAR