rs267607162
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
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 |
rs267607163
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
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 |
rs267607164
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
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 |
rs267607165
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
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 |
rs267607165
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
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 |
rs864321717
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
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 |
rs878853256
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
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 |
rs878853257
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
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 |
rs878853258
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
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 |
rs267607162
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs267607163
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs267607164
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs267607164
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs747480526
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs747480526
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs864321717
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs878853256
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs878853257
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs878853258
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1555625363
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
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 |
rs1555625363
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
Malformations of Cortical Development, Group II
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
|
29706646 |
2018 |
rs2302898
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
Hair Color
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
|
30531825 |
2018 |
rs4586434
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
Hair Color
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
|
30531825 |
2018 |
rs1555625571
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
Overgrowth
|
C |
0.700 |
CausalMutation |
CLINVAR |
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
|
26639658 |
2016 |
rs1555625571
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation |
CLINVAR |
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
|
26639658 |
2016 |