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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 Biomarker group BEFREE Xq27.1 duplication encompassing SOX3 has been implicated in the aetiology of X-linked hypopituitarism associated with intellectual disability and neural tube defects. 31678974 2019
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism
0.100 Biomarker disease BEFREE Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date - A Large Case Series of Unrelated Patients and a Literature Review. 31678974 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE We have identified several differentially expressed genes, including MET, KDR, and SOX3, which are associated with tumor invasiveness, malignancy, and unfavorable prognosis in glioblastoma patients. 29939324 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE Flow redistribution in liver segments by coil-embolization of variant HAs is a feasible technique that does not seem to compromise tumor response in patients undergoing M-PHP. 31650973 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.030 Biomarker group BEFREE Our data demonstrate that SOX3 duplication is a genomic imbalance involved in the pathogenesis of NTDs. 31299102 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.030 Biomarker group BEFREE Xq27.1 duplication encompassing SOX3 has been implicated in the aetiology of X-linked hypopituitarism associated with intellectual disability and neural tube defects. 31678974 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.030 Biomarker phenotype BEFREE SOX3 plays a role in both normal neural development and carcinogenesis. 30209685 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.030 AlteredExpression phenotype BEFREE MTT, immunocytochemistry and Transwell assays were used to evaluate the effects of exogenous SOX3 overexpression on the viability, proliferation, migration and invasion of glioblastoma cells, respectively. 30209685 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 Biomarker disease BEFREE These results suggested that miR-483 could suppress BC cell proliferation and promote BC cell apoptosis via targeting SOX3, which might be a potential therapeutic target in BC. 30915751 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.020 Biomarker disease BEFREE Thus, the aim of this work was to elucidate the role of SOX3 in glioblastoma. 30209685 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.020 Biomarker disease BEFREE We have identified several differentially expressed genes, including MET, KDR, and SOX3, which are associated with tumor invasiveness, malignancy, and unfavorable prognosis in glioblastoma patients. 29939324 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.020 Biomarker disease BEFREE We have identified several differentially expressed genes, including MET, KDR, and SOX3, which are associated with tumor invasiveness, malignancy, and unfavorable prognosis in glioblastoma patients. 29939324 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.020 Biomarker disease BEFREE Thus, the aim of this work was to elucidate the role of SOX3 in glioblastoma. 30209685 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.020 Biomarker disease BEFREE Thus, the aim of this work was to elucidate the role of SOX3 in glioblastoma. 30209685 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.020 Biomarker disease BEFREE We have identified several differentially expressed genes, including MET, KDR, and SOX3, which are associated with tumor invasiveness, malignancy, and unfavorable prognosis in glioblastoma patients. 29939324 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 Biomarker disease BEFREE These results suggested that miR-483 could suppress BC cell proliferation and promote BC cell apoptosis via targeting SOX3, which might be a potential therapeutic target in BC. 30915751 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.020 Biomarker disease BEFREE Thus, the aim of this work was to elucidate the role of SOX3 in glioblastoma. 30209685 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.020 Biomarker disease BEFREE We have identified several differentially expressed genes, including MET, KDR, and SOX3, which are associated with tumor invasiveness, malignancy, and unfavorable prognosis in glioblastoma patients. 29939324 2019
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele
0.010 Biomarker disease BEFREE The detection of an SOX3 microduplication by chromosomal microarray analysis (CMA) in two female fetuses with MMC prompted us to analyze retrospectively by qPCR this gene in a cohort of 53 fetuses with MMC. 31299102 2019
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome
0.010 GeneticVariation disease BEFREE In a mouse model of Usher syndrome type 3A deafness (gene <i>CLRN1</i>), we use AAV9-PHP.B encoding <i>Clrn1</i> to partially rescue hearing. 30581889 2019
Secondary malignant neoplasm of liver
0.010 Biomarker disease BEFREE We retrospectively analyzed pretreatment angiograms in all 32 patients that underwent M-PHP between January 2014 and March 2017 for unresectable liver metastases from ocular melanoma. 31650973 2019
CUI: C0558356
Disease: Malignant melanoma of eye
Malignant melanoma of eye
0.010 Biomarker disease BEFREE We retrospectively analyzed pretreatment angiograms in all 32 patients that underwent M-PHP between January 2014 and March 2017 for unresectable liver metastases from ocular melanoma. 31650973 2019
CUI: C0751177
Disease: Cancer of Head
Cancer of Head
0.010 Biomarker disease BEFREE The differences between the PHP and pancreatic head plexus I should be understood, even though liver function is not obviously affected after PHP excision for pancreatic head cancer. 31573097 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.010 GeneticVariation disease BEFREE Using autism as a model sex-biased disorder, the SOX3/SRY set was enriched in autism gene databases (FDR ≤ 0.05), and there were more de novo variations from the male autism spectrum disorder (ASD) samples under the SRY peaks compared to the random peaks (p < 0.024). 30537354 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.010 GeneticVariation group BEFREE Here, we hypothesized that genes distinctively targeted by only one or both homologous proteins highly conserved across therian mammals, SOX3 and SRY, could induce sexual adaptive changes that result in a differential risk for neurodevelopmental disorders. 30537354 2019