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 CTD_human
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.450 GeneticVariation group CLINVAR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.450 Biomarker group GENOMICS_ENGLAND
CUI: C2063326
Disease: Right ventricular cardiomyopathy
Right ventricular cardiomyopathy 		0.110 Biomarker disease HPO
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.110 Biomarker disease HPO
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.100 Biomarker phenotype HPO
CUI: C0030252
Disease: Palpitations
Palpitations 		0.100 Biomarker phenotype HPO
CUI: C0039070
Disease: Syncope
Syncope 		0.100 Biomarker phenotype HPO
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		0.100 Biomarker phenotype HPO
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		0.100 Biomarker disease HPO
CUI: C0343073
Disease: Wooly hair
Wooly hair 		0.100 Biomarker phenotype HPO
CUI: C0344424
Disease: Ventricular Arrhythmia by ECG Finding
Ventricular Arrhythmia by ECG Finding 		0.100 Biomarker phenotype HPO
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3552311
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR 		0.100 CausalMutation disease CLINVAR
CUI: C4310975
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA 		0.100 CausalMutation disease CLINVAR
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 AlteredExpression disease BEFREE Northern analysis, quantitative real-time polymerase chain reaction assay and Western blot analysis showed that desmocollin 3 is present in normal and immortalized human mammary epithelial cells, but consistently exhibits a significant, and often complete, down-regulation in breast cancer cell lines and primary breast tumors, both at the mRNA and protein levels. 11408939 2001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 AlteredExpression disease BEFREE Northern analysis, quantitative real-time polymerase chain reaction assay and Western blot analysis showed that desmocollin 3 is present in normal and immortalized human mammary epithelial cells, but consistently exhibits a significant, and often complete, down-regulation in breast cancer cell lines and primary breast tumors, both at the mRNA and protein levels. 11408939 2001
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 AlteredExpression group BEFREE Northern analysis, quantitative real-time polymerase chain reaction assay and Western blot analysis showed that desmocollin 3 is present in normal and immortalized human mammary epithelial cells, but consistently exhibits a significant, and often complete, down-regulation in breast cancer cell lines and primary breast tumors, both at the mRNA and protein levels. 11408939 2001
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: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 GeneticVariation disease BEFREE For the first time, we have identified mutations in desmocollin-2 in patients with ARVD/C, a finding that is consistent with the hypothesis that ARVD/C is a disease of the desmosome. 17033975 2006
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 AlteredExpression group BEFREE Loss of Dsc2 (8/19) and de novo expression of Dsc1 (11/19) and Dsc3 (6/19) was also found in colorectal adenocarcinomas on a background of colitis. 17088906 2006
CUI: C0009319
Disease: Colitis
Colitis 		0.010 AlteredExpression disease BEFREE Loss of Dsc2 (8/19) and de novo expression of Dsc1 (11/19) and Dsc3 (6/19) was also found in colorectal adenocarcinomas on a background of colitis. 17088906 2006
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.010 Biomarker group LHGDN Desmocollin switching in colorectal cancer. 17088906 2006