TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776983
rs587776983
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C1851943
Disease:
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) 		0.810 GeneticVariation BEFREE We present a study of the cellular effects of TUBB4A mutations responsible for H-ABC (p.Asp249Asn), DYT4 (p.Arg2Gly), a severe combined phenotype with hypomyelination and encephalopathy (p.Asn414Lys), as well as milder phenotypes causing isolated hypomyelination (p.Val255Ile and p.Arg282Pro). 28973395 2017
dbSNP: rs587776983
rs587776983
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C1851943
Disease:
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) 		0.810 GeneticVariation UNIPROT
dbSNP: rs587776983
rs587776983
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C1851943
Disease:
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) 		C 0.810 CausalMutation CLINVAR
dbSNP: rs483352809
rs483352809
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6 		T 0.800 CausalMutation CLINVAR Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. 24850488 2014
dbSNP: rs483352809
rs483352809
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6 		T 0.800 CausalMutation CLINVAR Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). 24706558 2014
dbSNP: rs483352809
rs483352809
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6 		T 0.800 CausalMutation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
dbSNP: rs483352809
rs483352809
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6 		T 0.800 CausalMutation 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
dbSNP: rs483352809
rs483352809
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6 		0.800 GeneticVariation 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
dbSNP: rs886039470
rs886039470
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6 		T 0.700 CausalMutation CLINVAR Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. 29451896 2018
dbSNP: rs587777429
rs587777429
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR [A report of atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by a de novo mutation in tubulin beta 4A (TUBB4A) gene and literature review]. 28592043 2017
dbSNP: rs587777429
rs587777429
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Screening study of TUBB4A in isolated dystonia. 28655586 2017
dbSNP: rs587777429
rs587777429
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR [A report of atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by a de novo mutation in tubulin beta 4A (TUBB4A) gene and literature review]. 28592043 2017
dbSNP: rs587777429
rs587777429
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Screening study of TUBB4A in isolated dystonia. 28655586 2017
dbSNP: rs767399782
rs767399782
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6 		T 0.700 CausalMutation CLINVAR TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes. 28973395 2017
dbSNP: rs886039470
rs886039470
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Screening study of TUBB4A in isolated dystonia. 28655586 2017
dbSNP: rs886039470
rs886039470
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR [A report of atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by a de novo mutation in tubulin beta 4A (TUBB4A) gene and literature review]. 28592043 2017
dbSNP: rs587777429
rs587777429
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. 26643067 2016
dbSNP: rs587777429
rs587777429
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. 26643067 2016
dbSNP: rs587777429
rs587777429
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia. 27188707 2016
dbSNP: rs587777429
rs587777429
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia. 27188707 2016
dbSNP: rs587777468
rs587777468
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6 		A 0.700 CausalMutation CLINVAR TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. 26643067 2016
dbSNP: rs797045074
rs797045074
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6 		G 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs886039470
rs886039470
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. 26643067 2016
dbSNP: rs886039470
rs886039470
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia. 27188707 2016
dbSNP: rs886041008
rs886041008
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6 		T 0.700 CausalMutation CLINVAR TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. 26643067 2016