DisGeNET - a database of gene-disease associations

TUBB2B, tubulin beta 2B class IIb, 347733

N. diseases: 82; N. variants: 14

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137853194

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

26732629

2016

dbSNP:

rs137853195

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

26732629

2016

dbSNP:

rs137853196

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

26732629

2016

dbSNP:

rs397514567

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

26732629

2016

dbSNP:

rs397514568

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

26732629

2016

dbSNP:

rs397514569

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

26732629

2016

dbSNP:

rs398122369

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

26732629

2016

dbSNP:

rs878853284

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

26732629

2016

dbSNP:

rs137853194

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

22333901

2012

dbSNP:

rs137853194

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

23001566

2012

dbSNP:

rs137853195

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

23001566

2012

dbSNP:

rs137853195

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

22333901

2012

dbSNP:

rs137853196

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

22333901

2012

dbSNP:

rs137853196

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

23001566

2012

dbSNP:

rs397514567

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

22333901

2012

dbSNP:

rs397514567

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

23001566

2012

dbSNP:

rs397514568

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

22333901

2012

dbSNP:

rs397514568

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

23001566

2012

dbSNP:

rs397514569

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

23001566

2012

dbSNP:

rs397514569

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

22333901

2012

dbSNP:

rs398122369

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

23001566

2012

dbSNP:

rs398122369

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

22333901

2012

dbSNP:

rs398122369

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

CausalMutation

CLINVAR

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

23001566

2012

dbSNP:

rs878853284

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

22333901

2012

dbSNP:

rs878853284

Entrez Id:	347733
Gene Symbol:	TUBB2B

TUBB2B

CUI:	C3552236
Disease:

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7

0.800

GeneticVariation

UNIPROT

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

23001566

2012