TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Disease: Whispering dysphonia, hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary 		0.620 Biomarker disease CTD_human
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary 		0.620 Biomarker disease GENOMICS_ENGLAND Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary 		0.620 Biomarker disease BEFREE TUBB4A mutations also have been described as causative of DYT4 ("hereditary whispering dysphonia"). 25545912 2015
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary 		0.620 Biomarker disease GENOMICS_ENGLAND A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. 23582646 2013
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary 		0.620 GermlineCausalMutation disease ORPHANET
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary 		0.620 GeneticVariation disease BEFREE After the recent identification of TUBB4A mutation as the genetic basis of the disease, the clinical and neuroimaging phenotype related to TUBB4A mutations expanded, ranging from primary dystonia type 4 with normal MRI to severe H-ABC cases. 26643067 2016
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary 		0.620 Biomarker disease GENOMICS_ENGLAND Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. 24526230 2014