SOX17, SRY-box transcription factor 17, 64321

N. diseases: 113; N. variants: 2
Disease: Congenital arteriovenous malformation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		0.020 Biomarker disease BEFREE Immunohistochemical Analysis of Sox17 Associated Pathway in Brain Arteriovenous Malformations. 26463399 2016
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		0.020 GeneticVariation disease BEFREE In the American cohort, genotyped SNPs near SOX-17 (OR 0.74; 95% CI 0.56-0.98), RBBP8 (OR 0.76; 95% CI 0.62-0.94) and an imputed SNP near CDKN2B-AS1 (OR 0.79; 95% CI 0.64-0.98) were significantly associated with AVM. 25053769 2015