DisGeNET - a database of gene-disease associations

TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527

Disease: Adrenocortical carcinoma ×

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:

rs587778720

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs587778720

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs587780073

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs587780073

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs587781991

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs587781991

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs587782529

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.010

GeneticVariation

BEFREE

p53 Tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li-Fraumeni syndrome and a child with adrenocortical carcinoma.

19714490

2009

dbSNP:

rs730882029

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.010

GeneticVariation

BEFREE

The germline mutation, R342X (16915C>T), and the novel mutation, R342P (16916G>C), were found in a child with adrenocortical carcinoma and in a LFS pediatric patient with multiple primaries.

19714490

2009

dbSNP:

rs747342068

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.710

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs747342068

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.710

GeneticVariation

BEFREE

She was found to have a base pair change (A-->C) at nucleotide 394 resulting in a lysine to glutamine amino acid change at codon 132 (K132Q), which remarkably has never been described in association with either adrenocortical carcinoma or osteosarcoma.

18989156

2008

dbSNP:

rs747342068

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.710

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs751477326

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.010

GeneticVariation

BEFREE

Novel germ line mutation p53-P177R in adult adrenocortical carcinoma producing neuron-specific enolase as a possible marker.

20421238

2010

dbSNP:

rs786201057

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs786201057

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs863224451

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs863224451

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs864622237

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs864622237

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs866775781

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs876660754

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs876660754

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0206686
Disease:

Adrenocortical carcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016