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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 Biomarker 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: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.020 Biomarker disease BEFREE The accuracy of DSC-MR imaging CBV maps in glioblastoma depends on acquisition and analysis protocols. 30309842 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.020 Biomarker disease BEFREE Analysis of the combined permeability and perfusion metrics obtained from a single DSC-MRI acquisition improves the diagnostic value for differentiating PCNSL from glioblastoma in comparison with single-parameter nCBV analysis. 30877463 2019
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma
0.010 GeneticVariation disease BEFREE The DSC-MRI procedure may provide insight into the IDH1/2 mutation and ATRX expression status and MGMT methylation profile of diffuse glioma; however, taking integrated oligodendroglioma into account limits the diagnostic performance of rCBV in non-invasively predicting the molecular subtype. 29468261 2019
CUI: C0002170
Disease: Alopecia
Alopecia
0.020 GeneticVariation disease BEFREE Autosomal recessive forms of hair loss (alopecia) disorders have previously been associated with variants in at least five different genes including hairless (HR), desmoglein-4 (DSG4), desmocollin-3 (DSC3), lipase-H (LIPH), and lysophosphatidic acid receptor 6 (LPAR6). 26148547 2015
CUI: C0002170
Disease: Alopecia
Alopecia
0.020 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
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.010 GeneticVariation disease BEFREE The DSC-MRI procedure may provide insight into the IDH1/2 mutation and ATRX expression status and MGMT methylation profile of diffuse glioma; however, taking integrated oligodendroglioma into account limits the diagnostic performance of rCBV in non-invasively predicting the molecular subtype. 29468261 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE In this study, we compared cerebral microcirculation in a cohort of AD and mild cognitive impairment (MCI) patients with that of age-matched controls, all without a history of diabetes or of hypertension for more than 2 years, using dynamic susceptibility contrast magnetic resonance imaging (DSC-MRI). 27951412 2017
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow
0.100 Biomarker phenotype HPO
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.020 GeneticVariation disease BEFREE Noninvasive Assessment of <i>IDH</i> Mutational Status in World Health Organization Grade II and III Astrocytomas Using DWI and DSC-PWI Combined with Conventional MR Imaging. 28450436 2017
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.020 Biomarker disease BEFREE The purpose of our study was to assess the value of dynamic susceptibility contrast MR imaging (DSC-MRI) and diffusion-weighted imaging (DWI) to characterize oligodendrogliomas and to distinguish them from astrocytomas. 30712139 2019
CUI: C0740364
Disease: Benign cyst of ovary
Benign cyst of ovary
0.010 AlteredExpression disease BEFREE The positive expression rates of Dsc3 were similar in ovarian cancer tissues (24/31:77.4%) and borderline ovarian tumor tissues (18/22:81.8%) (P>0.05), but were significantly higher in these cancerous tissues than in benign ovarian cyst tissues (3/19:15.8%) (P<0.05). 26261554 2015
CUI: C0862506
Disease: Borderline ovarian tumour
Borderline ovarian tumour
0.010 AlteredExpression disease BEFREE The positive expression rates of Dsc3 were similar in ovarian cancer tissues (24/31:77.4%) and borderline ovarian tumor tissues (18/22:81.8%) (P>0.05), but were significantly higher in these cancerous tissues than in benign ovarian cyst tissues (3/19:15.8%) (P<0.05). 26261554 2015
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.040 GeneticVariation group BEFREE Based on the retrospective analysis of DSC MRI data from 38 patients with pathology confirmed low (n = 18) and high (n = 20) grade gliomas, the results reveal the spatially defined intra-tumoral hemodynamic heterogeneity of brain tumors based on features of time course profiles. 31176951 2019
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.040 GeneticVariation group BEFREE Multisite Concordance of DSC-MRI Analysis for Brain Tumors: Results of a National Cancer Institute Quantitative Imaging Network Collaborative Project. 29794239 2018
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.040 Biomarker group BEFREE Eighty-three consecutive children with brain tumors underwent DSC perfusion with a standard dose of gadobutrol administered by an automated power injector. 30655255 2019
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.040 Biomarker group BEFREE The aim of this study was to differentiate hemangioblastomas from metastatic brain tumors using dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) and compare the diagnostic performances with diffusion-weighted imaging (DWI) and dynamic susceptibility contrast magnetic resonance imaging (DSC-MRI). 26952018 2017
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: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.030 AlteredExpression phenotype BEFREE Altered expression of desmocollin 3 (DSC3), a member of the desmosomal cadherin family, was found in various cancers; however, its functional involvement in carcinogenesis has not yet been elucidated. 22941060 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.030 Biomarker phenotype BEFREE Desmocollin 3 (DSC3), a member of the cadherin superfamily and integral component of desmosomes, is involved in carcinogenesis. 21364582 2011
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.030 Biomarker phenotype BEFREE Desmocollin 3 (DSC3) is a transmembrane adhesion protein of desmosomes and involved in carcinogenesis in various cancer types. 30857973 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.020 AlteredExpression disease BEFREE The expression of SOX30, DSP, JUP and DSC3 were detected in lung cancer cell lines, lung tissues of mice and patients' tissues by qPCR, WB, Immunofluorescence and Immunohistochemistry. 29855376 2018