Gene: TUBB3 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3 		0.040 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
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3 		0.040 GeneticVariation disease BEFREE Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. 26639658 2016
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3 		0.040 Biomarker disease BEFREE The aim of this study was to determine the frequency of mutations in tubulin genes (TUBB2B, TUBA1A, and TUBB3) in patients with malformations of cortical development (MCDs) of unknown origin. 24392928 2014
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3 		0.040 Biomarker disease BEFREE These new findings demonstrate that the spectrum of TUBB3-related phenotype is broader than previously described and includes malformations of cortical development (MCD) associated with neuronal migration and differentiation defects, axonal guidance and tract organization impairment. 20829227 2010