Gene: TUBB2B ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B 		0.330 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: 347733
Gene Symbol: TUBB2B
TUBB2B 		0.330 Biomarker disease BEFREE Inputs from genetic studies were provided through the identification of several mutated genes encoding either proteins associated with microtubules (DCX, LIS1, KIF2A, KIF5C, DYNC1H1) or tubulin subunits (TUBA1A, TUBB2B, TUBB5 and TUBG1), in malformations of cortical development (MCD). 24179174 2014
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B 		0.330 GeneticVariation disease BEFREE The phenotypic spectrum associated with TUBB2B mutations is wider than previously reported and includes diffuse, symmetric malformations of cortical development. 22333901 2012
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B 		0.330 Biomarker disease CTD_human Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. 19465910 2009