DisGeNET - a database of gene-disease associations

TUBEROUS SCLEROSIS 2 (disorder), C1860707

Variant: rs45517259 ×

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:

rs45517259

TSC2

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs45517259

TSC2

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs45517259

TSC2

0.800

CausalMutation

CLINVAR

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.

25432535

2015

dbSNP:

rs45517259

TSC2

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs45517259

TSC2

0.800

CausalMutation

CLINVAR

Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.

22867869

2013

dbSNP:

rs45517259

TSC2

0.800

GeneticVariation

UNIPROT

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

23519317

2013

dbSNP:

rs45517259

TSC2

0.800

CausalMutation

CLINVAR

Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.

21332470

2012

dbSNP:

rs45517259

TSC2

0.800

CausalMutation

CLINVAR

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

21309039

2011

dbSNP:

rs45517259

TSC2

0.800

CausalMutation

CLINVAR

TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase.

16464865

2006

dbSNP:

rs45517259

TSC2

0.800

CausalMutation

CLINVAR

Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.

17120248

2006

dbSNP:

rs45517259

TSC2

0.800

GeneticVariation

UNIPROT

Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.

15595939

2005

dbSNP:

rs45517259

TSC2

0.800

CausalMutation

CLINVAR

Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.

15963462

2005

dbSNP:

rs45517259

TSC2

0.800

GeneticVariation

UNIPROT

Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.

15963462

2005

dbSNP:

rs45517259

TSC2

0.800

GeneticVariation

UNIPROT

Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.

15340059

2004

dbSNP:

rs45517259

TSC2

0.800

GeneticVariation

UNIPROT

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

15024740

2004

dbSNP:

rs45517259

TSC2

0.800

GeneticVariation

UNIPROT

Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.

12271141

2002

dbSNP:

rs45517259

TSC2

0.800

CausalMutation

CLINVAR

TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.

11741832

2001

dbSNP:

rs45517259

TSC2

0.800

GeneticVariation

UNIPROT

Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.

10607950

2000

dbSNP:

rs45517259

TSC2

0.800

GeneticVariation

UNIPROT

Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.

10069705

1999

dbSNP:

rs45517259

TSC2

0.800

GeneticVariation

UNIPROT

Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.

10570911

1999

dbSNP:

rs45517259

TSC2

0.800

GeneticVariation

UNIPROT

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

10533067

1999

dbSNP:

rs45517259

TSC2

0.800

GeneticVariation

UNIPROT

Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.

10735580

1999

dbSNP:

rs45517259

TSC2

0.800

GeneticVariation

UNIPROT

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

10205261

1999

dbSNP:

rs45517259

TSC2

0.800

CausalMutation

CLINVAR

Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.

9829910

1998

dbSNP:

rs45517259

TSC2

0.800

GeneticVariation

UNIPROT

Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

9463313

1998