Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5350
Gene Symbol: PLN
PLN
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 CausalMutation 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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 CausalMutation 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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 CausalMutation 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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 GeneticVariation CLINVAR

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 CausalMutation CLINVAR

Entrez Id: 5350
Gene Symbol: PLN
PLN
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 GeneticVariation CLINVAR

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 GeneticVariation CLINVAR

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 GeneticVariation CLINVAR

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 CausalMutation CLINVAR

Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.690 CausalMutation CLINVAR

Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.690 GeneticVariation CLINVAR

Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 CausalMutation 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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 GeneticVariation CLINVAR Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish. 23992123

2014
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 GeneticVariation 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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 GeneticVariation CLINVAR Glycogen storage diseases presenting as hypertrophic cardiomyopathy. 15673802

2005
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 GeneticVariation CLINVAR

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 GeneticVariation CLINVAR

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 CausalMutation CLINVAR

Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 GeneticVariation CLINVAR

Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 CausalMutation CLINVAR

Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 CausalMutation CLINVAR

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 CausalMutation CLINVAR

Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 CausalMutation CLINVAR

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 GeneticVariation CLINVAR

Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 GeneticVariation CLINVAR