Disease: Agenesis of corpus callosum ×
Source: ALL
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 		0.020 AlteredExpression disease BEFREE Transcriptomic study followed by Gene Ontology classification indicated alteration of chromatin-related processes, including downregulated transcript levels of main SWI/SNF CRC subunits and elevated expression of BRM ATPase-coding SMARCA2 gene in ACC. 30382367 2019
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.020 Biomarker disease BEFREE Sequencing studies have implicated haploinsufficiency of <i>ARID1B</i>, a SWI/SNF chromatin-remodeling subunit, in short stature (Yu et al., 2015), autism spectrum disorder (O'Roak et al., 2012), intellectual disability (Deciphering Developmental Disorders Study, 2015), and corpus callosum agenesis (Halgren et al., 2012). 28695822 2017