DisGeNET - a database of gene-disease associations

TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317

Disease: TUBEROUS SCLEROSIS 2 (disorder) ×

Variant: rs137854250 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137854250

Entrez Id:	7249
Gene Symbol:	TSC2

TSC2

CUI:	C1860707
Disease:

TUBEROUS SCLEROSIS 2 (disorder)

0.700

CausalMutation

CLINVAR

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.

19259131

2009

dbSNP:

rs137854250

Entrez Id:	7249
Gene Symbol:	TSC2

TSC2

CUI:	C1860707
Disease:

TUBEROUS SCLEROSIS 2 (disorder)

0.700

CausalMutation

CLINVAR

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

10205261

1999

dbSNP:

rs137854250

Entrez Id:	7249
Gene Symbol:	TSC2

TSC2

CUI:	C1860707
Disease:

TUBEROUS SCLEROSIS 2 (disorder)

0.700

CausalMutation

CLINVAR

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

10533067

1999