DisGeNET - a database of gene-disease associations

Source: ALL

Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR ×

Variant: rs587777893 ×

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:

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

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

25799227

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

CausalMutation

CLINVAR