Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.900 GeneticVariation UNIPROT De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. 26732629

2016
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.900 GeneticVariation UNIPROT Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. 22333901

2012
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.900 Biomarker GENOMICS_ENGLAND An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.900 Biomarker GENOMICS_ENGLAND Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. 22333901

2012
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.900 GeneticVariation UNIPROT An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.900 GeneticVariation UNIPROT Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. 19465910

2009
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.900 Biomarker GENOMICS_ENGLAND Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. 19465910

2009
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		0.900 Biomarker CTD_human

Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.410 Biomarker CTD_human Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. 19465910

2009
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		0.330 Biomarker CTD_human Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. 19465910

2009
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		0.310 GermlineCausalMutation ORPHANET These observations led us to ask whether axon dysinnervation is a primary phenotype, and why the E421K, but not other, TUBB2B substitutions cause CFEOM. 23001566

2012
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C0394006
Disease: Dysequilibrium syndrome
Dysequilibrium syndrome 		0.300 GermlineCausalMutation ORPHANET Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. 28013290

2017
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.300 Biomarker CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462

2002
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms 		0.300 Biomarker CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462

2002
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental 		0.300 Biomarker CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462

2002
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma 		0.300 Biomarker CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462

2002
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell 		0.300 Biomarker CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462

2002
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		0.300 Biomarker CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462

2002
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C0205699
Disease: Carcinomatosis
Carcinomatosis 		0.300 Biomarker CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462

2002
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
CUI: C1257925
Disease: Mammary Carcinoma, Animal
Mammary Carcinoma, Animal 		0.300 Biomarker CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462

2002