DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: TUBEROUS SCLEROSIS 2 (disorder) ×

Variant: rs45517382 ×

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:

rs45517382

TSC2

CUI:	C1860707
Disease:	TUBEROUS SCLEROSIS 2 (disorder)

TUBEROUS SCLEROSIS 2 (disorder)

0.800

CausalMutation

CLINVAR

mTORC1-mediated downregulation of COX2 restrains tumor growth caused by TSC2 deficiency.

27078846

2016

dbSNP:

rs45517382

TSC2

CUI:	C1860707
Disease:	TUBEROUS SCLEROSIS 2 (disorder)

TUBEROUS SCLEROSIS 2 (disorder)

0.800

CausalMutation

CLINVAR

Phospholipase D1 is an effector of Rheb in the mTOR pathway.

18550814

2008

dbSNP:

rs45517382

TSC2

CUI:	C1860707
Disease:	TUBEROUS SCLEROSIS 2 (disorder)

TUBEROUS SCLEROSIS 2 (disorder)

0.800

CausalMutation

CLINVAR

The TSC1-TSC2 complex is required for proper activation of mTOR complex 2.

18411301

2008

dbSNP:

rs45517382

TSC2

CUI:	C1860707
Disease:	TUBEROUS SCLEROSIS 2 (disorder)

TUBEROUS SCLEROSIS 2 (disorder)

0.800

CausalMutation

CLINVAR

Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.

15024740

2004

dbSNP:

rs45517382

TSC2

CUI:	C1860707
Disease:	TUBEROUS SCLEROSIS 2 (disorder)

TUBEROUS SCLEROSIS 2 (disorder)

0.800

CausalMutation

CLINVAR

Tsc1+ and tsc2+ regulate arginine uptake and metabolism in Schizosaccharomyces pombe.

14718525

2004

dbSNP:

rs45517382

TSC2

CUI:	C1860707
Disease:	TUBEROUS SCLEROSIS 2 (disorder)

TUBEROUS SCLEROSIS 2 (disorder)

0.800

CausalMutation

CLINVAR

Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb.

12906785

2003

dbSNP:

rs45517382

TSC2

CUI:	C1860707
Disease:	TUBEROUS SCLEROSIS 2 (disorder)

TUBEROUS SCLEROSIS 2 (disorder)

0.800

CausalMutation

CLINVAR

TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.

12111193

2002

dbSNP:

rs45517382

TSC2

CUI:	C1860707
Disease:	TUBEROUS SCLEROSIS 2 (disorder)

TUBEROUS SCLEROSIS 2 (disorder)

0.800

CausalMutation

CLINVAR

The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.

9302281

1997