SOX17, SRY-box transcription factor 17, 64321

N. diseases: 113; N. variants: 2
Disease: Biliary Atresia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		0.200 Biomarker disease MGD Embryonic cholecystitis and defective gallbladder contraction in the Sox17-haploinsufficient mouse model of biliary atresia. 28432216 2017
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		0.200 Biomarker disease MGD Our results suggest that Sox17 plays a dosage-dependent function in the morphogenesis and maturation of gallbladder and bile duct epithelia during the late-organogenic stages, highlighting a novel entry point to the understanding of the etiology and pathogenesis of human congenital biliary atresia. 23293295 2013