DisGeNET - a database of gene-disease associations

Source: ALL

Disease: LI-FRAUMENI SYNDROME 1 ×

Variant: rs587783062 ×

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:

rs587783062

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

GeneticVariation

CLINVAR

The p53 isoform, Δ133p53α, stimulates angiogenesis and tumour progression.

22733133

2013

dbSNP:

rs587783062

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

GeneticVariation

CLINVAR

Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations.

22233476

2012

dbSNP:

rs587783062

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

GeneticVariation

CLINVAR

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

18414213

2008

dbSNP:

rs587783062

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

GeneticVariation

CLINVAR

Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome.

9764816

1998

dbSNP:

rs587783062

TP53

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 1

0.700

GeneticVariation

CLINVAR

Li-Fraumeni syndrome--a molecular and clinical review.

9218725

1997