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 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: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.110 Biomarker disease HPO
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		0.100 Biomarker phenotype HPO
CUI: C1858574
Disease: Sparse axillary hair
Sparse axillary hair 		0.100 Biomarker phenotype HPO
CUI: C1862863
Disease: Sparse body hair
Sparse body hair 		0.100 Biomarker phenotype HPO
CUI: C3551431
Disease: Sparse or absent eyelashes
Sparse or absent eyelashes 		0.100 Biomarker phenotype HPO
CUI: C3814530
Disease: Skin Vesicle
Skin Vesicle 		0.100 Biomarker phenotype HPO
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow 		0.100 Biomarker phenotype HPO
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 Biomarker group LHGDN Mutant p53 and aberrant cytosine methylation cooperate to silence gene expression. 12789271 2003
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 AlteredExpression phenotype LHGDN These results suggest an abnormal expression of Dsc3, Dsg3, and beta-catenin induced in the progression of oral carcinomas and that the Dsc3 expression level might be related to the regulation of beta-catenin in lymph node metastasis and cell proliferation in OSCCs. 17846785 2007
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.010 Biomarker group LHGDN Desmocollin switching in colorectal cancer. 17088906 2006
CUI: C2751292
Disease: Hypotrichosis And Recurrent Skin Vesicles
Hypotrichosis And Recurrent Skin Vesicles 		0.710 Biomarker disease CTD_human
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: 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: 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 GeneticVariation disease BEFREE 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 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