TUBA1A, tubulin alpha 1a, 7846

N. diseases: 82; N. variants: 46
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly
0.010 GeneticVariation disease BEFREE TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. 26493046 2015