Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.400 GeneticVariation CLINVAR Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. 23103869

2012
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.460 CausalMutation CLINVAR

Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.460 GeneticVariation CLINVAR

Entrez Id: 57538
Gene Symbol: ALPK3
ALPK3
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.140 GeneticVariation CLINVAR ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features. 28630369

2017
Entrez Id: 361
Gene Symbol: AQP4
AQP4
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 GeneticVariation CLINVAR

Entrez Id: 147429
Gene Symbol: AQP4-AS1
AQP4-AS1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 GeneticVariation CLINVAR

Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 GeneticVariation CLINVAR Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. 27640307

2016
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 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: 387119
Gene Symbol: CEP85L
CEP85L
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 CausalMutation CLINVAR Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. 23785128

2013
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 CausalMutation CLINVAR A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. 16432188

2006
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 GeneticVariation CLINVAR

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

Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.470 GeneticVariation CLINVAR

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

Entrez Id: 54344
Gene Symbol: DPM3
DPM3
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.110 GeneticVariation CLINVAR

Entrez Id: 1824
Gene Symbol: DSC2
DSC2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.450 GeneticVariation CLINVAR

Entrez Id: 1829
Gene Symbol: DSG2
DSG2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.460 GeneticVariation CLINVAR

Entrez Id: 100652770
Gene Symbol: DSG2-AS1
DSG2-AS1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 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: 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: 2010
Gene Symbol: EMD
EMD
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 GeneticVariation CLINVAR

Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.200 GeneticVariation CLINVAR

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.440 CausalMutation CLINVAR

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.440 GeneticVariation CLINVAR

Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 CausalMutation CLINVAR