DisGeNET - a database of gene-disease associations

FOCAL CORTICAL DYSPLASIA OF TAYLOR, C1846385

Gene: TSC2 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs745895675

rs745895675

TSC2

0.700

GeneticVariation

UNIPROT

Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.

2017

dbSNP:

rs1131691965

rs1131691965

TSC2

C

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1567387207

rs1567387207

TSC2

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1567437155

rs1567437155

TSC2

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs28934872

rs28934872

TSC2

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs45469298

rs45469298

TSC2

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs45517179

rs45517179

TSC2

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs45517222

rs45517222

TSC2

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs45517395

rs45517395

TSC2

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs45517412

rs45517412

PKD1 ; TSC2

T

0.700

CausalMutation

CLINVAR