DSC3, desmocollin 3, 1825

N. diseases: 103; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751292
Disease: Hypotrichosis And Recurrent Skin Vesicles
Hypotrichosis And Recurrent Skin Vesicles 		0.710 GeneticVariation disease BEFREE A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. 19765682 2009
CUI: C2751292
Disease: Hypotrichosis And Recurrent Skin Vesicles
Hypotrichosis And Recurrent Skin Vesicles 		0.710 Biomarker disease GENOMICS_ENGLAND A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. 19765682 2009
CUI: C2751292
Disease: Hypotrichosis And Recurrent Skin Vesicles
Hypotrichosis And Recurrent Skin Vesicles 		0.710 GermlineCausalMutation disease ORPHANET A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. 19765682 2009
CUI: C2751292
Disease: Hypotrichosis And Recurrent Skin Vesicles
Hypotrichosis And Recurrent Skin Vesicles 		0.710 Biomarker disease CTD_human
CUI: C2751292
Disease: Hypotrichosis And Recurrent Skin Vesicles
Hypotrichosis And Recurrent Skin Vesicles 		0.710 CausalMutation disease CLINVAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.330 Biomarker disease CTD_human Two examples include the antimetastatic, tumor suppressor genes, desmocollin 3 (DSC3) and MASPIN, which are frequently silenced in this manner in human breast cancer. 16799634 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.330 Biomarker disease CTD_human Two examples include the antimetastatic, tumor suppressor genes, desmocollin 3 (DSC3) and MASPIN, which are frequently silenced in this manner in human breast cancer. 16799634 2007
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.330 Biomarker group CTD_human 5-Aza-2'-deoxycytidine-mediated reductions in G9A histone methyltransferase and histone H3 K9 di-methylation levels are linked to tumor suppressor gene reactivation. 16799634 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.330 AlteredExpression disease BEFREE DSC3 expression was downregulated in 23 of 32 (72%) breast cancer specimens comprising: 22 invasive ductal carcinomas, 7 invasive lobular breast carcinomas, 2 invasive ductal carcinomas that metastasized to the lymph node, and a mucoid ductal carcinoma. 16168112 2005
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.330 AlteredExpression disease BEFREE DSC3 expression was downregulated in 23 of 32 (72%) breast cancer specimens comprising: 22 invasive ductal carcinomas, 7 invasive lobular breast carcinomas, 2 invasive ductal carcinomas that metastasized to the lymph node, and a mucoid ductal carcinoma. 16168112 2005
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.330 AlteredExpression group LHGDN We also used a quantitative real-time RT-PCR approach, and analyzed all breast tumor specimens for DSC3 expression. 16168112 2005
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.330 AlteredExpression group BEFREE We also used a quantitative real-time RT-PCR approach, and analyzed all breast tumor specimens for DSC3 expression. 16168112 2005
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.330 Biomarker disease BEFREE Gene-profiling experiments of breast cancer cells infected with wt p53 revealed both MASPIN and desmocollin 3 (DSC3) to be p53-target genes, even though both genes are silenced in association with aberrant cytosine methylation of their promoters. 12789271 2003
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.330 Biomarker disease BEFREE Gene-profiling experiments of breast cancer cells infected with wt p53 revealed both MASPIN and desmocollin 3 (DSC3) to be p53-target genes, even though both genes are silenced in association with aberrant cytosine methylation of their promoters. 12789271 2003
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.330 Biomarker group LHGDN Mutant p53 and aberrant cytosine methylation cooperate to silence gene expression. 12789271 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.330 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 		0.330 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 		0.330 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: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		0.300 Biomarker disease CTD_human 5-Aza-2'-deoxycytidine-mediated reductions in G9A histone methyltransferase and histone H3 K9 di-methylation levels are linked to tumor suppressor gene reactivation. 16799634 2007
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		0.300 Biomarker disease CTD_human 5-Aza-2'-deoxycytidine-mediated reductions in G9A histone methyltransferase and histone H3 K9 di-methylation levels are linked to tumor suppressor gene reactivation. 16799634 2007
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.110 GeneticVariation disease BEFREE Recent desmosomal genodermatoses described include lethal congenital epidermolysis bullosa (plakoglobin), cardiomyopathy with alopecia and palmoplantar keratoderma (plakoglobin), hypotrichosis with scalp vesicles (desmocollin 3), and generalized peeling skin disease (corneodesmosin). 21929534 2012
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.110 Biomarker disease HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Tumor rCBV estimates were obtained using DSC T2* perfusion analysis. 31134296 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Furthermore, the new method can potentially extract more tumor physiological information from DSC MRI comparing to the traditional model-based analysis and morphological analysis of tumor heterogeneity, thus may improve the characterizations of gliomas for better diagnosis and treatment decisions. 31176951 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Desmocollin 3 has a tumor suppressive activity through inhibition of AKT pathway in colorectal cancer. 30857973 2019