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 CTD_human
CUI: C2751292
Disease: Hypotrichosis And Recurrent Skin Vesicles
Hypotrichosis And Recurrent Skin Vesicles 		0.710 CausalMutation disease CLINVAR
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: 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: 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: 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: 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 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 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 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 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 Biomarker disease HPO
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: C0017638
Disease: Glioma
Glioma 		0.050 Biomarker disease BEFREE DTI metrics (<i>p</i>:<i>q</i> tensor decomposition) and DSC perfusion demonstrated a statistically significant difference in the mean values of ADC, the isotropic component of the diffusion tensor, the anisotropic component of the diffusion tensor, the total magnitude of the diffusion tensor, and rCBV among enhancing portions in tumefactive demyelinating lesions and high-grade gliomas (<i>P</i> ≤ .02), with the highest specificity for ADC, the anisotropic component of the diffusion tensor, and relative CBV (92.9%). 28209583 2017
CUI: C0017638
Disease: Glioma
Glioma 		0.050 Biomarker disease BEFREE To assess the diagnostic performance of dynamic susceptibility contrast perfusion magnetic resonance perfusion imaging (DSC-MRI) for in vivo human glioma molecular profiling. 29468261 2019
CUI: C0017638
Disease: Glioma
Glioma 		0.050 Biomarker disease BEFREE Eligible studies reported on patients evaluated with relative maximal CBV derived from DSC with a confirmed neuropathologic diagnosis of glioma World Health Organization grades II and III. 28522666 2017
CUI: C0017638
Disease: Glioma
Glioma 		0.050 Biomarker disease BEFREE We retrospectively reviewed 16 patients who had DSC MRI and molecular studies of their excised gliomas for 1p19q deletions. 17520715 2007
CUI: C0017638
Disease: Glioma
Glioma 		0.050 Biomarker disease BEFREE This study was performed to validate the efficacy of three-dimensional pseudocontinuous arterial spin labeling (pCASL) compared with dynamic susceptibility contrast-enhanced perfusion-weighted imaging (DSC-PWI) in distinguishing radiation-induced brain injury from glioma recurrence in patients with glioma. 29398151 2018
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.040 Biomarker disease BEFREE Patients (<i>n</i> = 40) with intracranial cerebrovascular disease and technically adequate DSA, fMRI and provocative DSC perfusion studies were retrospectively grouped into single vessels proximal to and distal from the circle of Willis, multiple vessels, and Moyamoya disease. 29371256 2018
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.040 Biomarker disease BEFREE Meanwhile, there was significant difference between rCBF-ASL and rCBF-DSC (P<.05), and there was strong correlation between rCBF-ASL and rCBF-DSC (r = 0.839, P<.001), and moderate correlation between rBAT-ASL and rTTP-DSC (r = 0.519, P<.001).Both mTI-ASL and DSC-PWI could be used to assess perfusion state in MMD patients before revascularization surgery effectively. 30313089 2018
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.040 Biomarker disease BEFREE DSC-MRI is a useful modality for evaluating the clinical conditions of individual adult patients with MMD. 28778721 2017