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: C1261473
Disease: Sarcoma
Sarcoma
0.330 Biomarker group BEFREE To interrogate cellular heterogeneity in mouse glioma models, we utilized a replication-competent avian sarcoma-leukosis virus long terminal repeat with splice acceptor/tumor virus A (RCAS-tva) system to generate spontaneous mouse gliomas that contained a Sox2-enhanced green fluorescent protein (EGFP) reporter. 25416826 2015
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.320 Biomarker group CTD_human DNA methylome changes by estradiol benzoate and bisphenol A links early-life environmental exposures to prostate cancer risk. 27415467 2016
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.320 Biomarker group BEFREE mRNA expression of transcription factors OCT3/4 and SOX2 highly correlated in primary prostate tumor tissue samples. 20303530 2010
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.320 Biomarker group BEFREE Our data demonstrate a critical role of SOX2 in prostate tumorigenesis and provide mechanistic insight into prostate tumor aggressiveness and progression mediated by aberrant AR and p53 signaling pathways. 31358900 2019
CUI: C0039981
Disease: Thoracic Neoplasms
Thoracic Neoplasms
0.300 Biomarker group CTD_human SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas. 26343384 2015
CUI: C1527390
Disease: Neoplasms, Intracranial
Neoplasms, Intracranial
0.300 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.110 Biomarker group HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.110 Biomarker group BEFREE No additional SOX2 loss-of-function mutations were detected in this cohort, showing that SOX2 is clearly not a major cause of intellectual disability without anophthalmia/microphthalmia. 27862890 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation group CLINVAR SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. 16145681 2005
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation group CLINVAR Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. 17219395 2007
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation group CLINVAR Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome. 20803647 2010
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation group CLINVAR Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry. 15578584 2005
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation group CLINVAR Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations. 27427475 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation group CLINVAR SOX2 anophthalmia syndrome. 15812812 2005
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation group CLINVAR Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. 19921648 2009
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation group CLINVAR Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. 16932809 2006
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE The aim of this study was to explore the prognostic role of SOX2 in a large series of squamous cell carcinomas and adenocarcinomas of the lung. 21460799 2011
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE Immunohistochemistry was performed for the CSC markers Lgr5 and SOX2 and the immune-associated markers CD8, Foxp3 and PD-L1 in 79 cases of endoscopically-excised rectal lesions, ranging from low grade adenoma (LG) to invasive adenocarcinoma (AdCa). 30405752 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE In addition, we examined a large spectrum of lung cancer entities with neuroendocrine differentiation (ie, small cell cancers, large cell cancers, typical and atypical carcinoids) for SOX2 and TTF1 copy number gains to reveal potential molecular ties to squamous cell carcinomas or adenocarcinomas of the lung. 21334718 2011
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE Regulation of nestin via Akt/Sox2 is, thus, a promising candidate for novel therapeutic approaches to eradicate CSCs in lung AD. 24481417 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE SOX2 amplifications were found in subsets of SCCs (37.5%), SNUCs (35.3%), INVCs (37.5%) and ADs (8.3%) but not in ACCs. 23544055 2013
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE Similarly, Sox2 amplification was more frequent in SCCs (52/70; 72%) than in ADCs (6/77; 8%) (P < .0001). 23086772 2012
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE Multivariate analysis of overall survival indicated increased SOX2 gene copy number (P = 0.008), stage I-II (P<0.001), and adenocarcinoma or SCC histology (P = 0.016) as independent, favorable prognostic factors. 24736592 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE A Yap-Myc-Sox2-p53 Regulatory Network Dictates Metabolic Homeostasis and Differentiation in Kras-Driven Pancreatic Ductal Adenocarcinomas. 31447265 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE Here, we sought to characterize the expression profile of SOX2 and CDX2 in the sequential alterations of the esophageal mucosa towards adenocarcinoma and compare it with the well-established gastric and intestinal mucin profiles (MUC5AC, MUC6, and MUC2). 27766003 2016