TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Disease: Leukodystrophy, Hypomyelinating, 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 CausalMutation disease CLINVAR Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. 29451896 2018
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 CausalMutation disease CLINVAR TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes. 28973395 2017
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 CausalMutation disease CLINVAR TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. 26643067 2016
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 Biomarker disease GENOMICS_ENGLAND TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. 26643067 2016
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 CausalMutation disease CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 CausalMutation disease CLINVAR Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 Biomarker disease GENOMICS_ENGLAND Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 CausalMutation disease CLINVAR H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? 25545912 2015
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 Biomarker disease GENOMICS_ENGLAND Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 CausalMutation disease CLINVAR A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease. 24974158 2015
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 CausalMutation disease CLINVAR Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. 25772097 2015
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 CausalMutation disease CLINVAR TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum. 25168210 2015
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 CausalMutation disease CLINVAR TUBB4A de novo mutations cause isolated hypomyelination. 25085639 2014
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 CausalMutation disease CLINVAR Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. 24850488 2014
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 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
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 CausalMutation disease CLINVAR Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. 24742798 2014
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 CausalMutation disease CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 CausalMutation disease CLINVAR Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). 24706558 2014
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 GeneticVariation disease CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 CausalMutation disease CLINVAR Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. 23424103 2013
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 CausalMutation disease CLINVAR 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: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		0.600 GeneticVariation disease UNIPROT 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