Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1824
Gene Symbol: DSC2
DSC2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 GeneticVariation CLINVAR RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. 31333075

2019
Entrez Id: 1824
Gene Symbol: DSC2
DSC2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 GeneticVariation CLINVAR Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 31568572

2019
Entrez Id: 1824
Gene Symbol: DSC2
DSC2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 GeneticVariation CLINVAR Patient Outcomes From a Specialized Inherited Arrhythmia Clinic. 26743238

2016
Entrez Id: 1824
Gene Symbol: DSC2
DSC2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 GeneticVariation CLINVAR Mechanistic basis of desmosome-targeted diseases. 23911551

2013
Entrez Id: 1824
Gene Symbol: DSC2
DSC2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 GeneticVariation CLINVAR Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations. 21062920

2011
Entrez Id: 1824
Gene Symbol: DSC2
DSC2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 GeneticVariation CLINVAR Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. 19863551

2010
Entrez Id: 1824
Gene Symbol: DSC2
DSC2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 GeneticVariation CLINVAR These data identify DSC2 mutations as a cause of ARVC in humans and demonstrate that physiologic levels of DSC2 are crucial for normal cardiac desmosome formation, early cardiac morphogenesis, and cardiac function. 17186466

2006