TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607162
rs267607162
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
0.800 GeneticVariation UNIPROT Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521 2010
dbSNP: rs267607163
rs267607163
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
0.800 GeneticVariation UNIPROT Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521 2010
dbSNP: rs267607164
rs267607164
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
0.800 GeneticVariation UNIPROT Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521 2010
dbSNP: rs267607165
rs267607165
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
A 0.800 CausalMutation CLINVAR Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521 2010
dbSNP: rs267607165
rs267607165
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
0.800 GeneticVariation UNIPROT Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521 2010
dbSNP: rs864321717
rs864321717
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
0.800 GeneticVariation UNIPROT Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521 2010
dbSNP: rs878853256
rs878853256
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
0.800 GeneticVariation UNIPROT Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227 2010
dbSNP: rs878853257
rs878853257
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
0.800 GeneticVariation UNIPROT Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227 2010
dbSNP: rs878853258
rs878853258
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
0.800 GeneticVariation UNIPROT Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227 2010
dbSNP: rs267607162
rs267607162
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
T 0.800 CausalMutation CLINVAR
dbSNP: rs267607163
rs267607163
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
A 0.800 CausalMutation CLINVAR
dbSNP: rs267607164
rs267607164
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
A 0.800 CausalMutation CLINVAR
dbSNP: rs267607164
rs267607164
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
C 0.800 CausalMutation CLINVAR
dbSNP: rs747480526
rs747480526
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
T 0.800 CausalMutation CLINVAR
dbSNP: rs747480526
rs747480526
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
0.800 GeneticVariation UNIPROT
dbSNP: rs864321717
rs864321717
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
T 0.800 CausalMutation CLINVAR
dbSNP: rs878853256
rs878853256
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
G 0.800 CausalMutation CLINVAR
dbSNP: rs878853257
rs878853257
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
A 0.800 CausalMutation CLINVAR
dbSNP: rs878853258
rs878853258
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
T 0.800 CausalMutation CLINVAR
dbSNP: rs1555625363
rs1555625363
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646 2018
dbSNP: rs1555625363
rs1555625363
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1837249
Disease:
Malformations of Cortical Development, Group II
T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646 2018
dbSNP: rs2302898
rs2302898
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0018498
Disease:
Hair Color
A 0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs4586434
rs4586434
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0018498
Disease:
Hair Color
0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease:
Overgrowth
C 0.700 CausalMutation CLINVAR Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. 26639658 2016
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. 26639658 2016