MESD, mesoderm development LRP chaperone, 23184

N. diseases: 9; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.310 Biomarker disease GENOMICS_ENGLAND Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. 31564437 2019
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.310 GeneticVariation disease BEFREE Because complete absence of MESD causes embryonic lethality in mice, we hypothesized that the OI-associated mutations are hypomorphic alleles since these mutations occur downstream of the chaperone activity domain but upstream of ER-retention domain. 31564437 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 GeneticVariation disease BEFREE Stool DNA-based meSDC2 LTE-qMSP showed an overall sensitivity of 90.2% with AUC of 0.902 in detecting CRC (0-IV) not associated with tumor stage, location, sex, or age (P > 0.05), with a specificity of 90.2%. 30876480 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Stool DNA-based meSDC2 LTE-qMSP showed an overall sensitivity of 90.2% with AUC of 0.902 in detecting CRC (0-IV) not associated with tumor stage, location, sex, or age (P > 0.05), with a specificity of 90.2%. 30876480 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE We herein demonstrated that LRP6 expression is up-regulated in human triple negative breast cancer (TNBC) patients and human TNBC cell lines, and that knockdown of LRP6 expression and treatment of recombinant Mesd protein (a specific inhibitor of LRP6) significantly decreased cell migration and invasion of TNBC MDA-MB-231 and BT549 cells. 28247948 2017
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 AlteredExpression disease BEFREE We herein demonstrated that LRP6 expression is up-regulated in human triple negative breast cancer (TNBC) patients and human TNBC cell lines, and that knockdown of LRP6 expression and treatment of recombinant Mesd protein (a specific inhibitor of LRP6) significantly decreased cell migration and invasion of TNBC MDA-MB-231 and BT549 cells. 28247948 2017
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 AlteredExpression disease BEFREE We herein demonstrated that LRP6 expression is up-regulated in human triple negative breast cancer (TNBC) patients and human TNBC cell lines, and that knockdown of LRP6 expression and treatment of recombinant Mesd protein (a specific inhibitor of LRP6) significantly decreased cell migration and invasion of TNBC MDA-MB-231 and BT549 cells. 28247948 2017
CUI: C0039538
Disease: Teratoma
Teratoma 		0.010 GeneticVariation disease BEFREE Fusion of the SUMO/Sentrin-specific protease 1 gene SENP1 and the embryonic polarity-related mesoderm development gene MESDC2 in a patient with an infantile teratoma and a constitutional t(12;15)(q13;q25). 15917269 2005
CUI: C1368898
Disease: Adult Teratoma
Adult Teratoma 		0.010 GeneticVariation disease BEFREE Fusion of the SUMO/Sentrin-specific protease 1 gene SENP1 and the embryonic polarity-related mesoderm development gene MESDC2 in a patient with an infantile teratoma and a constitutional t(12;15)(q13;q25). 15917269 2005
CUI: C2347762
Disease: Childhood Teratoma
Childhood Teratoma 		0.010 GeneticVariation disease BEFREE Fusion of the SUMO/Sentrin-specific protease 1 gene SENP1 and the embryonic polarity-related mesoderm development gene MESDC2 in a patient with an infantile teratoma and a constitutional t(12;15)(q13;q25). 15917269 2005