Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. 26639658

2016
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR A family with axonal sensorimotor polyneuropathy with TUBB3 mutation. 25482575

2015
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. 25559402

2015
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. 24612975

2014
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. 25059107

2014
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR [The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis]. 24257358

2013
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR β-Tubulin mutations that cause severe neuropathies disrupt axonal transport. 23503589

2013
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. 23378218

2013
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521

2010
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227

2010