DSC2, desmocollin 2, 1824

N. diseases: 81; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864850
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. 29567486 2018
CUI: C1864850
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 		0.700 GeneticVariation disease UNIPROT Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy. 28256248 2017
CUI: C1864850
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 		0.700 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1864850
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 		0.700 CausalMutation disease CLINVAR Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry). 28600387 2017
CUI: C1864850
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 		0.700 CausalMutation disease CLINVAR Mechanistic basis of desmosome-targeted diseases. 23911551 2013
CUI: C1864850
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 		0.700 GeneticVariation disease CLINVAR Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. 23863954 2013
CUI: C1864850
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 		0.700 GeneticVariation disease CLINVAR Mechanistic basis of desmosome-targeted diseases. 23911551 2013
CUI: C1864850
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 		0.700 CausalMutation disease CLINVAR Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. 23863954 2013
CUI: C1864850
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 		0.700 GeneticVariation disease UNIPROT Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations. 21062920 2011
CUI: C1864850
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 		0.700 GeneticVariation disease UNIPROT Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. 19863551 2010
CUI: C1864850
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 		0.700 CausalMutation disease CLINVAR Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. 18957847 2009
CUI: C1864850
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 		0.700 GeneticVariation disease CLINVAR Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. 18957847 2009
CUI: C1864850
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 		0.700 Biomarker disease GENOMICS_ENGLAND Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. 18957847 2009
CUI: C1864850
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 		0.700 GeneticVariation disease UNIPROT Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. 17033975 2006
CUI: C1864850
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 		0.700 Biomarker disease CTD_human
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.450 GeneticVariation group BEFREE DSP_Lys1581Glu and DSC2_p.Thr275Met were classified according to American College of Medical Genetics and Genomics consensus statement guidelines as pathogenic or likely pathogenic for arrhythmogenic cardiomyopathy in three patients (30%). 31024045 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.450 Biomarker group BEFREE Therefore, we developed a mouse model overexpressing desmocollin-2 to determine its potential contribution to cardiomyopathy and intercellular adhesion pathology. 28339476 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.450 GeneticVariation group BEFREE Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy. 26310507 2015
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.450 Biomarker group BEFREE Phenotypic analysis of arrhythmogenic cardiomyopathy in the Hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriers. 25497880 2014
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.450 GeneticVariation group BEFREE A homozygous truncation mutation in DSC2 leads to a cardiac-restricted phenotype of an early onset biventricular arrhythmogenic cardiomyopathy. 23863954 2013
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.450 GeneticVariation group CLINVAR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.450 Biomarker group GENOMICS_ENGLAND
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic 		0.300 Biomarker disease CTD_human Characterization of chemically induced liver injuries using gene co-expression modules. 25226513 2014
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		0.300 Biomarker phenotype CTD_human Characterization of chemically induced liver injuries using gene co-expression modules. 25226513 2014
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced 		0.300 Biomarker disease CTD_human Characterization of chemically induced liver injuries using gene co-expression modules. 25226513 2014