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: rs1057518686
rs1057518686
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057521924
rs1057521924
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs143395134
rs143395134
Entrez Id: 4157;10381
Gene Symbol: MC1R;TUBB3
MC1R;TUBB3
CUI: C0268495
Disease:
Oculocutaneous albinism type 2 		G 0.700 GeneticVariation CLINVAR Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population. 26197705 2015
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: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR [The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis]. 24257358 2013
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. 24612975 2014
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227 2010
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. 25559402 2015
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR A family with axonal sensorimotor polyneuropathy with TUBB3 mutation. 25482575 2015
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. 23378218 2013
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. 25559402 2015
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR β-Tubulin mutations that cause severe neuropathies disrupt axonal transport. 23503589 2013
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227 2010
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 Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521 2010
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR β-Tubulin mutations that cause severe neuropathies disrupt axonal transport. 23503589 2013
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521 2010
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR A family with axonal sensorimotor polyneuropathy with TUBB3 mutation. 25482575 2015
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR [The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis]. 24257358 2013
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. 25059107 2014
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. 24612975 2014
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. 23378218 2013
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. 25059107 2014
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