DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR ×

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:

rs1085307113

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.810

GeneticVariation

UNIPROT

dbSNP:

rs1057519779

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1085307114

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.800

GeneticVariation

UNIPROT

dbSNP:

rs587777893

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.800

GeneticVariation

UNIPROT

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.

27830187

2016

dbSNP:

rs587777893

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.800

GeneticVariation

UNIPROT

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

26018084

2015

dbSNP:

rs587777893

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.800

GeneticVariation

UNIPROT

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

25878179

2015

dbSNP:

rs587777893

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.800

GeneticVariation

UNIPROT

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

25799227

2015

dbSNP:

rs587777894

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.800

GeneticVariation

UNIPROT

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.

27830187

2016

dbSNP:

rs587777894

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.800

GeneticVariation

UNIPROT

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

25799227

2015

dbSNP:

rs587777894

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.800

GeneticVariation

UNIPROT

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

26018084

2015

dbSNP:

rs587777894

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.800

GeneticVariation

UNIPROT

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

25878179

2015

dbSNP:

rs749030456

TSC1

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.800

GeneticVariation

UNIPROT

Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.

28215400

2017

dbSNP:

rs1057519914

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.

27830187

2016

dbSNP:

rs1057519914

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

25878179

2015

dbSNP:

rs1057519914

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

25799227

2015

dbSNP:

rs1057519914

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

26018084

2015

dbSNP:

rs1060505021

TSC1

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.

28215400

2017

dbSNP:

rs587777895

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.

27830187

2016

dbSNP:

rs587777895

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

26018084

2015

dbSNP:

rs587777895

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

25799227

2015

dbSNP:

rs587777895

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

25878179

2015

dbSNP:

rs745895675

TSC2

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.

28215400

2017

dbSNP:

rs913197212

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT