SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342376
Disease: Panhypopituitarism - X-linked
Panhypopituitarism - X-linked 		0.510 GeneticVariation disease BEFREE Duplications and deletions of Xq26-27 including SOX3 (Xq27.1) have been associated with X-linked mental retardation and isolated growth hormone deficiency (OMIM 300123) or X-linked panhypopituitarism (OMIM 312000). 29175558 2018
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.170 GeneticVariation disease BEFREE Duplications and deletions of Xq26-27 including SOX3 (Xq27.1) have been associated with X-linked mental retardation and isolated growth hormone deficiency (OMIM 300123) or X-linked panhypopituitarism (OMIM 312000). 29175558 2018
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.150 GeneticVariation disease BEFREE Duplications and deletions of Xq26-27 including SOX3 (Xq27.1) have been associated with X-linked mental retardation and isolated growth hormone deficiency (OMIM 300123) or X-linked panhypopituitarism (OMIM 312000). 29175558 2018
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		0.100 AlteredExpression disease BEFREE This is the first study to report that the rare SOX3 missense variant associated with hypopituitarism possibly due to increased activation of SOX3 target genes and disregulation of β-catenin target genes. 30125608 2018
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.070 GeneticVariation disease BEFREE Pseudohypoparathyroidism type 1A (PHP1A), pseudoPHP (PPHP), and PHP type 1B (PHP1B) are caused by maternal and paternal GNAS mutations and abnormal methylation at maternal GNAS promoter(s), respectively. 29693731 2018
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.040 Biomarker disease BEFREE Duplications and deletions of Xq26-27 including SOX3 (Xq27.1) have been associated with X-linked mental retardation and isolated growth hormone deficiency (OMIM 300123) or X-linked panhypopituitarism (OMIM 312000). 29175558 2018
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.030 Biomarker disease BEFREE BMD and related markers were compared between PHP and NS-HP patients. 29240265 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 Biomarker phenotype BEFREE Sex determining region Y-box protein 3 (SOX3) is involved in embryonic development and tumorigenesis. 29484385 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.030 AlteredExpression phenotype BEFREE We also found that the downregulation of SOX3 decreased the expression of Snail, Twist and matrix metalloproteinase-9 (MMP-9), and increased E-cadherin expression, resulting in the inhibition of cell migration and invasion. 29484385 2018
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 Biomarker disease BEFREE Taken together, our data indicate that SOX3 may serve as an oncogene in osteosarcoma, and SOX3 downregulation may prove to be a novel approach for the inhibition of osteosarcoma progression. 29484385 2018
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 Biomarker disease BEFREE Taken together, our data indicate that SOX3 may serve as an oncogene in osteosarcoma, and SOX3 downregulation may prove to be a novel approach for the inhibition of osteosarcoma progression. 29484385 2018
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.020 Biomarker disease BEFREE Taken together, our data indicate that SOX3 may serve as an oncogene in osteosarcoma, and SOX3 downregulation may prove to be a novel approach for the inhibition of osteosarcoma progression. 29484385 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 AlteredExpression disease BEFREE The aim of the present study was to evaluate the expression patterns of selected SOXB proteins in the SGZ, of 8-week-old male and female 5xFAD mice, which represent a transgenic model of AD with a severe and very early development of amyloid pathology. 30103323 2018
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.010 GeneticVariation disease BEFREE Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure. 30125608 2018
CUI: C0878787
Disease: Growth failure
Growth failure 		0.010 GeneticVariation phenotype BEFREE Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure. 30125608 2018
CUI: C4725091
Disease: metastatic intraocular melanoma
metastatic intraocular melanoma 		0.010 GeneticVariation disease BEFREE M-PHP results in durable intrahepatic disease control and can form the basis for an integrated multimodality treatment approach in appropriately selected UM patients. 29284076 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.030 AlteredExpression phenotype BEFREE Silencing of Sox3 in endometrial cancer stem cell upregulated the epithelial marker E-cadherin, downregulated the mesenchymal marker vimentin, and significantly reduced cell invasion in vitro; overexpression of Sox3 reversed these phenotypes. 28618953 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 Biomarker disease BEFREE The B-CAN platform runs on Apache server and interacts with the backstage of MySQL database by PHP. 29312567 2017
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 AlteredExpression disease BEFREE The effects of SOX3 expression on OS cell biological traits were investigated by overexpressing and downregulating SOX3 protein. 28335789 2017
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.020 Biomarker disease BEFREE Thus, Sox-3 may become a new prognostic marker and therapeutic target in ESCC. 28670361 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 Biomarker group BEFREE Altogether, the AAV-PHP.B viral platform enables non-invasive, widespread, and long-lasting global neural expression of therapeutic genes, such as GBA1, providing an invaluable approach to treat neurodegenerative diseases with diffuse brain pathology such as synucleinopathies. 28882452 2017
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 AlteredExpression disease BEFREE The effects of SOX3 expression on OS cell biological traits were investigated by overexpressing and downregulating SOX3 protein. 28335789 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 Biomarker disease BEFREE The B-CAN platform runs on Apache server and interacts with the backstage of MySQL database by PHP. 29312567 2017
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.020 AlteredExpression disease BEFREE The effects of SOX3 expression on OS cell biological traits were investigated by overexpressing and downregulating SOX3 protein. 28335789 2017
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 Biomarker disease BEFREE Silencing of Sox3 in endometrial cancer stem cell upregulated the epithelial marker E-cadherin, downregulated the mesenchymal marker vimentin, and significantly reduced cell invasion in vitro; overexpression of Sox3 reversed these phenotypes. 28618953 2017