Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Mutations in α- and β-tubulin encoding genes: implications in brain malformations. 25008804

2015
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Mutations in α- and β-tubulin encoding genes: implications in brain malformations. 25008804

2015
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. 23528852

2014
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 24860126

2014
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. 23528852

2014
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 24860126

2014
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. 23361065

2013
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. 23361065

2013
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR TUBA1A mutation-associated lissencephaly: case report and review of the literature. 22264709

2012
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR TUBA1A mutation-associated lissencephaly: case report and review of the literature. 22264709

2012
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. 20466733

2010
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. 20466733

2010
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. 18728072

2008
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. 18669490

2008
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. 18954413

2008
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. 18728072

2008
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. 18669490

2008
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. 18954413

2008
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). 17584854

2007
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). 17584854

2007