TUBA1B, tubulin alpha 1b, 10376

N. diseases: 96; N. variants: 0
Disease: Lissencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.020 GeneticVariation disease BEFREE More recently, de novo missense mutations in the alpha-tubulin 1a gene (TUBA1A) located on chromosome 12q13.12, have also been associated with more or less severe defects of cortical development, resulting in complete agyria in the most severe cases of lissencephaly. 20376468 2010
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.020 GeneticVariation disease BEFREE Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. 17218254 2007