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
CUI: C1865361
Disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
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
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 GeneticVariation group BEFREE Similar to core biopsies, UA samples enriched for GSCs that differentiated into neural lineages, showed inter-individual variation of GSC markers, and induced tumors. 27605047 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 GeneticVariation group BEFREE This confirms that SAMS is a human malformation syndrome resulting from GSC mutations. 24290375 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 GeneticVariation group BEFREE We considered that the CHRD gene and the chordin-regulating GSC (goosecoid) gene could be candidate genes for Cornelia de Lange syndrome (CDLS), a developmental malformation syndrome which is primarily characterised by mental handicap, growth retardation, distinctive facial features and limb-reduction defects. 10480362 1999
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 GeneticVariation group 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.Mol Cancer Res; 15(2); 225-33.©2016 AACR. 27903708 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 GeneticVariation group 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.Mol Cancer Res; 15(2); 225-33.©2016 AACR. 27903708 2017
CUI: C0302142
Disease: Deformity
Deformity 		0.020 GeneticVariation group BEFREE This confirms that SAMS is a human malformation syndrome resulting from GSC mutations. 24290375 2013
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation disease BEFREE We genotyped 1,486 subjects with type 2 diabetes from a Norwegian population-based cohort (HUNT2) for single-nucleotide polymorphisms (SNPs) located near the BNC2, SORCS1, GSC and WDR72 loci. 21294870 2011
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.010 GeneticVariation phenotype BEFREE The candidacy of the CHRD and GSC genes was supported by several lines of evidence: prior evidence for a CDLS gene at 3q26.3-q27; a report suggesting a significant association between CDLS and thrombocytopenia; suspected genetic heterogeneity in CDLS; location of the GSC gene in close proximity to a 14q32 breakpoint detected in a CDLS patient with a balanced de novo translocation; known regulation of chordin expression by goosecoid; and the pattern of embryonic expression of the mouse GSC gene. 10480362 1999
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.010 GeneticVariation disease BEFREE The SNP adjacent to DICER1 also showed osteoblast cis-regulatory activity of GSC, in which mutations have previously been reported to cause hip dysplasia. 30320955 2019
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		0.010 GeneticVariation disease BEFREE The SNP adjacent to DICER1 also showed osteoblast cis-regulatory activity of GSC, in which mutations have previously been reported to cause hip dysplasia. 30320955 2019
CUI: C1865361
Disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
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
CUI: C1865361
Disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
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
CUI: C1865361
Disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
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
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: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
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 In the present study, we investigated the prognostic roles of the O6-methylguanine-DNA methyltransferase (MGMT) gene methylation status, the protein profiles of MGMT, and the glioma stem cell (GSC) marker CD133 in malignant glioma resistance to radiotherapy. 21769436 2011
CUI: C0017638
Disease: Glioma
Glioma 		0.100 Biomarker disease BEFREE We found that Nestin (a type VI intermediate filament protein), like the glioma stem cell (GSC) markers CD133 and CD15, exhibited different levels of expression in primary human glioblastoma specimens. 23524267 2013
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