Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. 26639658 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. 25559402 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR A family with axonal sensorimotor polyneuropathy with TUBB3 mutation. 25482575 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. 24612975 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. 25059107 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR β-Tubulin mutations that cause severe neuropathies disrupt axonal transport. 23503589 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. 23378218 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR [The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis]. 24257358 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521 2010
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227 2010