SOX2, SRY-box transcription factor 2, 6657

N. diseases: 503; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.360 Biomarker group CTD_human SOX2 is an amplified lineage-survival oncogene in lung and esophageal squamous cell carcinomas. 19801978 2009
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.360 AlteredExpression group BEFREE Furthermore, we assessed the associations of serum SOX2 levels with clinical existing lung tumor markers, such as squamous cell carcinoma antigen, cytokeratin fragment 21-1, and neuron-specific enolase. 24126941 2013
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.360 AlteredExpression group BEFREE Established lung tumors retained SOX2 expression. 24746758 2014
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.360 AlteredExpression group BEFREE In addition, histological staining of lung tumor sections showed reduction in SOX2 expression was associated with inhibition markers of epithelial-to-mesenchymal transition. 30831275 2019
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.360 Biomarker group BEFREE In the current studies, we examined for the first time a possible role of AnxA2 in regulating SA100A10 and SOX2 in promoting a resistant phenotype of lung tumors derived from H1650 SP cells. 24727000 2014
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.360 AlteredExpression group BEFREE Expression of Sox2, frequently amplified in human SCC, specifically cooperates with loss of Lkb1 to promote squamous lung tumors. 24953650 2014
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.360 AlteredExpression group BEFREE SOX2 expression is associated with poor prognosis in lung cancer patients; moreover, SOX2, EGFR, and BCL2L1 expression levels were significantly correlated in lung tumors. 23940081 2013
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.350 Biomarker group BEFREE Equally important, our data suggests that increases in the expression of SOX2 during brain tumor progression are likely to be linked closely with changes in other critical genes that work in concert with SOX2 to enhance the tumorigenicity of brain tumors. 22937156 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.350 Biomarker group BEFREE Understanding the functional differences of Sox2 between glioma-initiating cells and normal neural stem cells would contribute to therapeutic approach for treatment of brain tumors. 20537983 2010
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.350 Biomarker group CTD_human A novel brain tumour model in zebrafish reveals the role of YAP activation in MAPK- and PI3K-induced malignant growth. 27935819 2017
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.350 Biomarker group BEFREE To further explore the role of Sox2, we performed in vitro analysis with brain tumor stem cells (BTSCs) and established glioma cell lines. 22069467 2011
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.350 AlteredExpression group BEFREE Furthermore, miR-21 and SOX2 showed up-regulation and overlapping expression pattern in RCAS/tv-a generated mouse brain tumor specimens. 22931209 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.350 AlteredExpression group BEFREE Using a previously described culturing condition that selectively promotes the growth of brain tumor initiating cells, which express the stem cell markers nestin and SOX-2, we characterize the expression of α-amino-3-hydroxy-5-methyl-4-isozolepropionic acid (AMPA)-type glutamate receptor subunits in brain tumor initiating cells derived from glioblastomas. 23110111 2012
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.330 GenomicAlterations group CGI
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.330 GeneticVariation group BEFREE SOX2-silenced squamous cell carcinoma: a highly malignant form of esophageal cancer with SOX2 promoter hypermethylation. 28862264 2018
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.330 AlteredExpression group BEFREE Here we showed that in esophageal cancer cell lines the levels of SOX2 proteins are not directly correlated to the copy numbers of SOX2 genes and are strongly influenced by proteostasis. 30894683 2019
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.330 AlteredExpression group BEFREE miR-625 has been reported to exhibit abnormal expression in esophageal cancer (EC), but the mechanism and functions of miR-625 in esophageal cancer remain unclear. miR-625 down-regulation and Sox2 up-regulation were validated by qRT-PCR in 158 EC samples. 24508466 2014
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker group BEFREE Screening of SOX2 was completed in 89 patients with a variety of ocular anomalies, including 28 with A/M and 61 with normal eye size and anterior segment dysgenesis (28), cataract (14), isolated coloboma (5), or other eye disorders (14). 20454695 2010
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker group BEFREE We used the new selector technique, MLGA (multiplex ligation-dependent genome amplification), to confirm deletions in two genes, SOX2 (SRY [sex determining region Y]) box 2) and OTX2 (orthodenticle homeobox 2), in individuals with developmental eye disease. 19641633 2009
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 GeneticVariation group BEFREE We searched for SOX2 mutation in 24 patients with typical hippocampal sclerosis and for common variations in SOX2 in 655 patients without eye disease but with epilepsy, including 91 patients with febrile seizures, 93 with hippocampal sclerosis, and 258 with temporal lobe epilepsy. 16529618 2006
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.330 Biomarker group CTD_human SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas. 26343384 2015
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.330 AlteredExpression group BEFREE In the Ewing's sarcoma and fibromatosis samples, two sarcomas where miR-182-5p is significantly downregulated, multiple predicted targets were significantly upregulated, including HMCN1, NKX2-2, SCNN1G, and SOX2. 26121316 2015
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.330 AlteredExpression group BEFREE SOX2 expression was correlated with important clinicopathological features, including tumor stage, tumor grade, tumor architecture and the presence of glandular or sarcoma differentiation, and was an independent predictor of poor DFS and CSS. 31695499 2019