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: rs797045074
rs797045074
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C4022745
Disease:
Abnormal basal ganglia MRI signal intensity 		T 0.700 CausalMutation CLINVAR
dbSNP: rs748787734
rs748787734
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0231471
Disease:
Abnormal posture 		C 0.700 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
dbSNP: rs748787734
rs748787734
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C4520981
Disease:
Abnormality of the basal ganglia 		C 0.700 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
dbSNP: rs797045074
rs797045074
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C3279222
Disease:
Aplasia/Hypoplasia of the cerebellum 		T 0.700 CausalMutation CLINVAR
dbSNP: rs748787734
rs748787734
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C1842364
Disease:
Central hypotonia 		C 0.700 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
dbSNP: rs587777074
rs587777074
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0700095
Disease:
Central neuroblastoma 		0.010 GeneticVariation BEFREE To elucidate the pathogenic mechanisms conferred by TUBB4A mutations leading to the different phenotypes, we functionally characterized three pathogenic TUBB4A variants (c.4C>G,p.R2G; c.745G>A,p.D249N; c.811G>A, p.A271T) as representatives of the mutational and disease spectrum) in human neuroblastoma cells and human induced pluripotent stem cell (iPSC)-derived neurons. 30079973 2018
dbSNP: rs748787734
rs748787734
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0742028
Disease:
Cerebellar vermis atrophy 		C 0.700 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
dbSNP: rs748787734
rs748787734
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2677328
Disease:
Cerebral hypomyelination 		C 0.700 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
dbSNP: rs797045074
rs797045074
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2677328
Disease:
Cerebral hypomyelination 		T 0.700 CausalMutation CLINVAR
dbSNP: rs767399782
rs767399782
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0007789
Disease:
Cerebral Palsy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs587777074
rs587777074
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C4086165
Disease:
Childhood Neuroblastoma 		0.010 GeneticVariation BEFREE To elucidate the pathogenic mechanisms conferred by TUBB4A mutations leading to the different phenotypes, we functionally characterized three pathogenic TUBB4A variants (c.4C>G,p.R2G; c.745G>A,p.D249N; c.811G>A, p.A271T) as representatives of the mutational and disease spectrum) in human neuroblastoma cells and human induced pluripotent stem cell (iPSC)-derived neurons. 30079973 2018
dbSNP: rs748787734
rs748787734
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C1836830
Disease:
Developmental regression 		C 0.700 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
dbSNP: rs748787734
rs748787734
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0013362
Disease:
Dysarthria 		C 0.700 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
dbSNP: rs587776983
rs587776983
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C1527344
Disease:
Dysphonia 		0.010 GeneticVariation BEFREE No pathogenic variants, including the exon 1 variant (c.4C>G) identified in the DYT4 whispering dysphonia kindred, were found in this study. 24598712 2014
dbSNP: rs748787734
rs748787734
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0013421
Disease:
Dystonia 		C 0.700 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
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: rs587777074
rs587777074
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C1851943
Disease:
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587777428
rs587777428
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C1851943
Disease:
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs483352809
rs483352809
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C1851943
Disease:
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) 		0.010 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: C0752203
Disease:
Dystonia, Primary 		0.010 GeneticVariation BEFREE The c.4C>G DYT4 mutation appears to be private, and clinical testing for TUBB4A mutations is not justified in spasmodic dysphonia or other forms of primary dystonia. 24598712 2014
dbSNP: rs483352809
rs483352809
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0085584
Disease:
Encephalopathies 		0.010 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: C0085584
Disease:
Encephalopathies 		0.010 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: rs756762431
rs756762431
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0085584
Disease:
Encephalopathies 		0.010 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