GSC, goosecoid homeobox, 145258

N. diseases: 61; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
0.630 GeneticVariation disease BEFREE This confirms that SAMS is a human malformation syndrome resulting from GSC mutations. 24290375 2013
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
0.630 GermlineCausalMutation disease ORPHANET This confirms that SAMS is a human malformation syndrome resulting from GSC mutations. 24290375 2013
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
0.630 Biomarker disease BEFREE The acronym SAMS (Short stature, Auditory canal atresia, Mandibular hypoplasia, and Skeletal abnormalities) was suggested to describe the main manifestations in this syndrome. 12116210 2002
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
0.630 Biomarker disease BEFREE SAMS: provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities. 9475592 1998
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
0.630 Biomarker disease GENOMICS_ENGLAND Nasal and pharyngeal abnormalities caused by the mouse goosecoid gene mutation. 9144415 1997
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
0.630 CausalMutation disease CLINVAR
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
0.310 Biomarker disease BEFREE The Gsc gene and the BMP5 maternal peptide gene may act as the predisposing genes of microtia. 19935299 2009
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
0.310 Biomarker disease GENOMICS_ENGLAND Nasal and pharyngeal abnormalities caused by the mouse goosecoid gene mutation. 9144415 1997
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
0.300 Biomarker group CTD_human Goosecoid acts cell autonomously in mesenchyme-derived tissues during craniofacial development. 10433910 1999
CUI: C0017638
Disease: Glioma
Glioma
0.100 Biomarker disease BEFREE Compounds 9 and 12 showed significant cytotoxic potency against GSC-18# (IC<sub>50</sub> =1.351 and 4.439 μg ml<sup>-1</sup> , respectively) and GSC-3# (IC<sub>50</sub> =10.88 and 6.348 μg ml<sup>-1</sup> , respectively) glioma stem cells, while compound 12 was also slightly less potent against GSC-12# (IC<sub>50</sub> =13.45 μg ml<sup>-1</sup> ) glioma stem cell growth. 30801931 2019
CUI: C0017638
Disease: Glioma
Glioma
0.100 Biomarker disease BEFREE Live-cell imaging, in vitro PDT, and in vivo studies were performed to elucidate the effect lapatinib had on PDT for a variety of glioma cell lines and as well as GSC-30 neurospheres in vivo. 31847378 2019
CUI: C0017638
Disease: Glioma
Glioma
0.100 Biomarker disease BEFREE Here, we determined whether leucine-rich repeat-containing G protein-coupled receptor 5 (LGR5), known as a stem cell marker for colon cancer and gastric cancer, can serve as a novel GSC marker involved in EMT and a therapeutic target in glioma. 30208924 2018
CUI: C0017638
Disease: Glioma
Glioma
0.100 Biomarker disease BEFREE The antitumor activity of the compounds against the glioma stem cells (GSC-3#, GSC-12#, GSC-18#) were investigated by phenotypic screening and MTS assays. 30195875 2018
CUI: C0017638
Disease: Glioma
Glioma
0.100 Biomarker disease BEFREE Previous studies showed Demethoxycurcumin (DMC) has stronger anti-glioma and anti-GSCs effects both in vitro and in vivo. 29575236 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 Biomarker disease BEFREE A t<i>G</i>LI1 activation signature (tGAS) correlated with glioma grade, tumor angiogenesis, and poor overall survival, and GBMs with high tGAS were enriched with mesenchymal GBM/GSC gene signatures. 29463580 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 Biomarker disease BEFREE In order to find new GB/GSC marker candidates that would be cell surface proteins (CSP), we have performed meta-analysis of genome-scale mRNA expression data from three data repositories (GEO, ArrayExpress and GLIOMASdb). 29734672 2018
CUI: C0017638
Disease: Glioma
Glioma
0.100 AlteredExpression disease BEFREE Glioma stem cells (GSCs) make up highly tumorigenic subpopulations within gliomas, and aberrant expression of GSC genes is a major underlying cause of glioma pathogenesis and treatment failure. 28666797 2017
CUI: C0017638
Disease: Glioma
Glioma
0.100 AlteredExpression disease BEFREE We also observed that MET associated with TMZ was able to reduce the expression of glioma stem cells (GSC) marker CD90 particularly in T98G cells but not that of CD133. 29348889 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 Biomarker disease BEFREE This study discovers a previously unrecognized role of AEG-1 in GSC biology and supports the significance of this gene as a potential therapeutic target for glioblastoma multiforme. 27903708 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 Biomarker disease BEFREE Patients with glioblastoma multiforme (GBM) that are cancer stem-cell-positive (GSC [+]) essentially cannot benefit from anti-angiogenic or anti-invasive therapy. 28419967 2017
CUI: C0017638
Disease: Glioma
Glioma
0.100 AlteredExpression disease BEFREE Immunohistochemistry and flow cytometry analysis of 12 tumor samples obtained from patients with high grade gliomas revealed that a considerable population (2-19%) of cells in all malignant gliomas expressed IL-17RA, with remarkable co-expression of the glioma stem cell (GSC) markers CD133, Nestin, and Sox2. 26755664 2016
CUI: C0017638
Disease: Glioma
Glioma
0.100 Biomarker disease BEFREE Glioma stem cells (GSCs) significantly contribute to GBM progression and post-treatment tumor relapse, therefore serving as a key therapeutic target; however, GSCs are resistant to conventional radiation therapy. 26354413 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 Biomarker disease BEFREE Glioma stem cells (GSCs) significantly contribute to GBM progression and post-treatment tumor relapse, therefore serving as a key therapeutic target; however, GSCs are resistant to conventional radiation therapy. 26354413 2015
CUI: C0017638
Disease: Glioma
Glioma
0.100 Biomarker disease BEFREE The hESC methylator-negative phenotype has demonstrated poor survival and upregulation of glioma stem cell (GSC) markers, and is enriched in one of the previously defined transcriptomic phenotypes-the mesenchymal phenotype. 24601786 2014
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 Biomarker disease BEFREE Altogether, basic GBM and GSC genetics and proteomics studies combined with strategies to discover GSC-targeting agents could lead to novel treatments that significantly improve patient survival and quality of life. 24657832 2014