TUBB2B, tubulin beta 2B class IIb, 347733

N. diseases: 82; N. variants: 14
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 		0.110 GeneticVariation disease BEFREE This report underlines that the association of polymicrogyria with thin or absent corpus callosum, dysmorphic basal ganglia, brainstem and vermis hypoplasia is highly likely to result from mutations in TUBB2B and provides further insight in how mutations in TUBB2B affect protein function. 23495813 2014
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.110 Biomarker disease HPO