TUBA8, tubulin alpha 8, 51807

N. diseases: 36; N. variants: 4
Disease: Malformations of Cortical Development ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		0.010 GeneticVariation disease BEFREE Genetic causes were identified from blood in 19 (23.5%) patients with malformations of cortical development; 14 patients had pathogenic or likely pathogenic single-nucleotide variants in seven genes, including DCX (n = 5), DEPDC5 (n = 2), PAFAH1B1 (n = 3), TUBA1A (n = 1), TUBA8 (n = 1), TUBB2B (n = 1), and TUBB3 (n = 1). 31481326 2019