DisGeNET - a database of gene-disease associations

Source: ALL

Disease: LI-FRAUMENI SYNDROME 1 ×

Variant: rs11540652 ×

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:

rs11540652

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

CausalMutation

CLINVAR

The TP53 website: an integrative resource centre for the TP53 mutation database and TP53 mutant analysis.

23161690

2013

dbSNP:

rs11540652

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

CausalMutation

CLINVAR

Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome.

21305319

2011

dbSNP:

rs11540652

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

CausalMutation

CLINVAR

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.

21601526

2011

dbSNP:

rs11540652

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

GeneticVariation

CLINVAR

Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.

21343334

2011

dbSNP:

rs11540652

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

CausalMutation

CLINVAR

Gastric cancer in individuals with Li-Fraumeni syndrome.

21552135

2011

dbSNP:

rs11540652

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

CausalMutation

CLINVAR

High frequency of de novo mutations in Li-Fraumeni syndrome.

19556618

2009

dbSNP:

rs11540652

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

CausalMutation

CLINVAR

Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.

18511570

2008

dbSNP:

rs11540652

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

CausalMutation

CLINVAR

Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

17606709

2007

dbSNP:

rs11540652

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

GeneticVariation

CLINVAR

Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

17606709

2007

dbSNP:

rs11540652

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

GeneticVariation

CLINVAR

Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.

12826609

2003

dbSNP:

rs11540652

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

CausalMutation

CLINVAR

Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites.

11139324

2001

dbSNP:

rs11540652

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

GeneticVariation

CLINVAR

Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.

9242456

1997

dbSNP:

rs11540652

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

CausalMutation

CLINVAR

Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.

1565143

1992