Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.050 Biomarker disease BEFREE Moreover, we demonstrated FSCN1 role in promoting cell invasion in a human ACC cell line only in the case of increased SF-1 dosage. 30476173 2019
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.050 AlteredExpression disease BEFREE Multivariate analysis revealed that the expression of SF1, IGF2, and Adipo R1 and R2 receptors was associated with ACC diagnosis. 28672049 2017
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.050 GeneticVariation disease BEFREE Amplification of the gene encoding the transcription factor steroidogenic factor-1 (SF-1; also known as NR5A1) is one of the genetic alterations common in ACC. 28270555 2017
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.050 Biomarker disease BEFREE Our aim was to assess the expression of 5 selected miRNAs (IGF2 gene-related miR-483-3p and 5p and hypoxia-induced miR-210, miR-195, and miR-1974) in a series of 51 ACCs (35 classical, 6 myxoid, and 10 oncocytic) as compared with clinical and pathologic features and immunohistochemical expression of prognostic markers, including steroidogenic factor 1, p53, β-catenin, and glucose transporter 1. 24890943 2014
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.050 Biomarker disease BEFREE SF-1 protein staining was detectable in 158 of 161 (98%) evaluable ACC samples including 49 (30%) with strong SF-1 staining and in all normal and benign steroidogenic tissues. 20660055 2010