TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Disease: Laryngeal dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1963946
Disease: Laryngeal dystonia
Laryngeal dystonia 		0.120 GeneticVariation disease BEFREE Using Sanger sequencing, we screened 57 patients with isolated laryngeal dystonia for mutations in known dystonia genes TOR1A (DYT1), THAP1 (DYT6), TUBB4A (DYT4), and GNAL (DYT25). 27093447 2016
CUI: C1963946
Disease: Laryngeal dystonia
Laryngeal dystonia 		0.120 GeneticVariation disease BEFREE A mutation in TUBB4 causes DYT4 dystonia in this Australian family with so-called whispering dysphonia, and other mutations in TUBB4 may contribute to spasmodic dysphonia. 23595291 2013
CUI: C1963946
Disease: Laryngeal dystonia
Laryngeal dystonia 		0.120 Biomarker disease HPO