SOX11, SRY-box transcription factor 11, 6664

N. diseases: 246; N. variants: 8
Disease: Dysmorphism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		0.020 Biomarker disease BEFREE Heterozygous mutations in their genes cause human diseases, in which skeletal dysmorphism is a major feature, such as campomelic dysplasia (SOX9), or a minor feature, such as LAMSHF syndrome (SOX5) and Coffin-Siris-like syndromes (SOX4 and SOX11). 30902252 2019
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		0.020 Biomarker disease BEFREE Human studies have associated SOX4 with bone mineral density and fracture risk in osteoporotic patients, and SOX11 with Coffin-Siris, a syndrome that includes skeletal dysmorphism. 26830765 2016