SOX5, SRY-box transcription factor 5, 6660

N. diseases: 150; N. variants: 37
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 GeneticVariation disease BEFREE Mutations in SOX5 have been previously found in patients with amyotrophic lateral sclerosis (ALS) and developmental delay, intellectual disability and dysmorphic features. 28186563 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 Biomarker disease BEFREE The smallest deletion encompassed only one gene, SOX5 (OMIM 604975), indicating that haploinsufficiency of SOX5 contributes to neuro developmental delay. 26111154 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 Biomarker disease BEFREE The SOX5 gene plays important roles in various developmental processes and has been associated with several neurodevelopmental disorders, mainly intellectual disability, developmental delay and language and/or speech delay as well as with behavior problems and dysmorphic features. 25847113 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 Biomarker disease BEFREE Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features. 23498568 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 Biomarker disease HPO