TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
Disease: Malformations of Cortical Development, Group II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.110 GeneticVariation disease CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646 2018
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.110 Biomarker disease BEFREE Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227 2010