TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748801
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		0.900 Biomarker disease GENOMICS_ENGLAND Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles. 27428177 2017
CUI: C2748801
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		0.900 CausalMutation disease CLINVAR Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521 2010
CUI: C2748801
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		0.900 Biomarker disease MGD Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521 2010
CUI: C2748801
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		0.900 GeneticVariation disease UNIPROT Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521 2010
CUI: C2748801
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		0.900 Biomarker disease GENOMICS_ENGLAND Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227 2010
CUI: C2748801
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		0.900 GeneticVariation disease CLINVAR
CUI: C2748801
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		0.900 Biomarker disease CTD_human
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.700 GeneticVariation disease CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646 2018
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in α- and β-tubulin encoding genes: implications in brain malformations. 25008804 2015
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.700 GeneticVariation disease UNIPROT Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227 2010
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.700 GermlineCausalMutation disease ORPHANET Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227 2010
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227 2010
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227 2010
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.700 CausalMutation disease CLINVAR
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.700 Biomarker disease CTD_human
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		0.500 GeneticVariation disease BEFREE A total of 13 patients with genetically confirmed CFEOM (via genetic testing for mutations in KIF21A, PHOX2A, and TUBB3) were retrospectively identified after undergoing strabismus surgery at Boston Children's Hospital and surgical outcomes were compared. 31541710 2019
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		0.500 GeneticVariation disease BEFREE Although mouse-model experiments have not revealed any findings of neuronal migration disorders, human TUBB3 mutations have been identified in patients with congenital fibrosis of the extraocular muscles. 26739025 2016
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		0.500 GeneticVariation disease BEFREE Because TUBB3 mutations reported to cause CFEOM had not been associated with cortical malformations, while mutations reported to cause MCD had not been associated with CFEOM or other forms of paralytic strabismus, it was hypothesized that each set of mutations might alter microtubule function differently. 26639658 2016
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		0.500 GeneticVariation disease BEFREE A de novo TUBB3 c.1228G>A mutation arose in a female proband who displayed CFEOM, facial weakness, intellectual and social disabilities, and anosmia. 25559402 2015
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		0.500 GeneticVariation disease BEFREE Four unrelated participants, also not meeting MDC, had large-angle exotropia, vertical gaze deficiency, and ptosis consistent with congenital fibrosis of the extraocular muscles type 3 (CFEOM3); 1 patient harbored a novel TUBB3 mutation, and 3 patients harbored previously reported de novo TUBB3 mutations. 24612975 2014
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		0.500 GeneticVariation disease BEFREE One of the eight TUBB3 mutations reported to cause congenital fibrosis of the extraocular muscles, c.1228G>A results in a TUBB3 E410K amino acid substitution that directly alters a kinesin motor protein binding site. 23378218 2013
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		0.500 Biomarker disease GENOMICS_ENGLAND Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521 2010
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		0.500 GeneticVariation disease BEFREE Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. 20393110 2010
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		0.500 GeneticVariation disease BEFREE One family had CFEOM type 3 (CFEOM3) with typically varying expression of phenotypes between individuals. 18332320 2008
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		0.500 GeneticVariation disease BEFREE Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). 15223798 2004