DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 ×

Gene: TUBB2B ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

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