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: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
0.010 AlteredExpression disease BEFREE Enrichr analysis resulted in the identification of SRY-related HMG-box gene 2 (SOX2) as a potential repressor that causes decrease in the expression of AdPC specific genes in NEPC. 31772313 2020
CUI: C0152244
Disease: Bone Cysts, Aneurysmal
Bone Cysts, Aneurysmal
0.010 AlteredExpression disease BEFREE All components consistently showed diffuse p16, p63 and SOX2, variable cytokeratin (CK)7 and CK17 and rare Ber-EP4 and MYB expression; there was a substantially lower Ki67 index in pure ABCs and the ABC-like components. 31393622 2020
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
0.010 AlteredExpression disease BEFREE The Evaluation of TUNEL, PCNA and SOX2 Expressions in Lens Epithelial Cells of Cataract Patients with Pseudoexfoliation Syndrome. 31424957 2020
CUI: C0220810
Disease: Congenital defects
Congenital defects
0.010 GeneticVariation group BEFREE Mutations in the key transcription factor, SOX2, alone account for 20% of anophthalmia (no eye) and microphthalmia (small eye) birth defects in humans - yet its regulation is not well understood, especially on the post-transcription level. 31814023 2020
CUI: C0279014
Disease: Childhood Germ Cell Tumor
Childhood Germ Cell Tumor
0.010 Biomarker disease BEFREE Unique and redundant roles of SOX2 and SOX17 in regulating the germ cell tumor fate. 31583686 2020
CUI: C0346957
Disease: Disseminated Malignant Neoplasm
Disseminated Malignant Neoplasm
0.010 AlteredExpression phenotype BEFREE Our findings demonstrate that tumor-suppressor proteins Oct4 and SOX2 have a prominent expression profile in the primary stage of cancer, but, in the metastatic stage, their expression is downregulated, leading to the failure to prevent metastatic cancer. 31646784 2020
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.010 AlteredExpression disease BEFREE circ_0005273 promotes thyroid carcinoma progression by SOX2 expression. 31693489 2020
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy
0.010 Biomarker disease BEFREE Fibroblasts were obtained from the skin biopsies of patients with FCD (n = 2) and controls (n = 2). iPSCs were generated by exposing the fibroblasts to viral vectors that contained the Yamanaka factors (OCT4, SOX2, KLF4, and c-MYC genes) responsible for promoving cell reprogramation. 31816405 2020
Carcinoma of urinary bladder, invasive
0.010 Biomarker disease BEFREE Ectopic expression of SOX2 reversed ChlA-F inhibition of cell invasion ability in human bladder cancer cells, suggesting that SOX2 is a major target of ChlA-F during its inhibition of human BC invasion. 31243344 2020
CUI: C3900101
Disease: Adult Germ Cell Tumor
Adult Germ Cell Tumor
0.010 Biomarker disease BEFREE Unique and redundant roles of SOX2 and SOX17 in regulating the germ cell tumor fate. 31583686 2020
Congenital arteriovenous malformation
0.010 Biomarker disease BEFREE EC-specific suppression of Sox2 normalized endothelial differentiation and lumen formation and improved the cerebral AVMs. 31232700 2019
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma
0.010 Biomarker disease BEFREE Conversion of Sox2-dependent Merkel cell carcinoma to a differentiated neuron-like phenotype by T antigen inhibition. 31527246 2019
CUI: C0022972
Disease: Lambert-Eaton Myasthenic Syndrome
Lambert-Eaton Myasthenic Syndrome
0.010 Biomarker disease BEFREE SOX2 antibodies were detectable in 61% of patients with LEMS-SCLC, and in other paraneoplastic disorders, such as opsoclonus-myoclonus and paraneoplastic cerebellar degeneration, only when there was an underlying SCLC. 30445363 2019
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.010 Biomarker disease BEFREE We further show that inhibition of OGT delayed initiation of pancreatic tumors by inhibition of Sox2. 31281487 2019
CUI: C0032000
Disease: Pituitary Adenoma
Pituitary Adenoma
0.010 AlteredExpression disease BEFREE SOX 2 Expression in Human Pituitary Adenomas-Correlations With Pituitary Function. 30587606 2019
CUI: C0040100
Disease: Thymoma
Thymoma
0.010 AlteredExpression disease BEFREE In IHC results, SOX2 (HR: 7.57, P = 0.001) and IGF-1 (HR: 9.43, P = 0.001) expression levels in TC were significantly higher than those in TM. 31097100 2019
CUI: C0150055
Disease: Chronic pain
Chronic pain
0.010 Biomarker phenotype BEFREE Taken together, our data demonstrated a chronic pain-induced nociceptive neurogenesis in DRG from Sox2-positive satellite cells, indicating a possible contribution of DRG neurogenesis to the pathology of chronic pain. 30648289 2019
Secondary malignant neoplasm of lung
0.010 AlteredExpression disease BEFREE Knockdown of miR-196a decreased transwell invasiveness, sphere formation, transendothelial invasion, and Slug, Twist, Oct4, and Sox2 expression, suppressed angiogenesis, and reduced sizes of xenotransplants and number of pulmonary metastasis. 31614906 2019
CUI: C0205969
Disease: Thymic Carcinoma
Thymic Carcinoma
0.010 AlteredExpression disease BEFREE In IHC results, SOX2 (HR: 7.57, P = 0.001) and IGF-1 (HR: 9.43, P = 0.001) expression levels in TC were significantly higher than those in TM. 31097100 2019
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
0.010 Biomarker group BEFREE SOX2 antibodies are specific (>90%) markers for SCLC, but are rarely found in patients with other tumours, whether neurological symptoms are present or not. 30445363 2019
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
0.010 Biomarker disease BEFREE SOX2-negative tumors were significantly associated with corticotrophin deficiency (p=0.047) and gonadotrophin deficiency (p=0.041). 30587606 2019
Paraneoplastic Cerebellar Degeneration
0.010 Biomarker disease BEFREE SOX2 antibodies were detectable in 61% of patients with LEMS-SCLC, and in other paraneoplastic disorders, such as opsoclonus-myoclonus and paraneoplastic cerebellar degeneration, only when there was an underlying SCLC. 30445363 2019
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome
0.010 GeneticVariation disease BEFREE Human fibroblasts cells from a female diagnosed with Nijmegen Breakage Syndrome (NBS) carrying the homozygous NBN c.657_661del5 mutation were used to generate integration-free induced pluripotent stem cells (iPSCs) by over-expressing episomal-based plasmids harbouring OCT4, SOX2, NANOG, KLF4, c-MYC and LIN28. 30616142 2019
CUI: C0558353
Disease: Tongue Carcinoma
Tongue Carcinoma
0.010 Biomarker disease BEFREE MTA3-SOX2 Module Regulates Cancer Stemness and Contributes to Clinical Outcomes of Tongue Carcinoma. 31552166 2019
CUI: C0575090
Disease: Equilibration disorder
Equilibration disorder
0.010 Biomarker phenotype BEFREE The results suggested that Sox2 is a potential target for generating Type I HCs, which may be important for regenerative strategies for balance disorders. 31678344 2019