DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR ×

Gene: TSC2 ×

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:	7249
Gene Symbol:	TSC2

TSC2

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

Biomarker

GENOMICS_ENGLAND

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

29056246

2017

Entrez Id:	7249
Gene Symbol:	TSC2

TSC2

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

Biomarker

CTD_human

Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.

28215400

2017

Entrez Id:	7249
Gene Symbol:	TSC2

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

Entrez Id:	7249
Gene Symbol:	TSC2

TSC2

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

Biomarker

GENOMICS_ENGLAND

Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes.

19175396

2009