DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Neoplastic Syndromes, Hereditary ×

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:

rs121912664

TP53

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.710

GeneticVariation

CLINVAR

Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.

20978130

2011

dbSNP:

rs121912664

TP53

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.710

GeneticVariation

CLINVAR

Structure and functionality of a designed p53 dimer.

11254385

2001

dbSNP:

rs121912664

TP53

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.710

GeneticVariation

CLINVAR

The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library.

16007150

2005

dbSNP:

rs995265408

RAD50 ; TH2LCRR

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

19409520

2009

dbSNP:

rs995265408

RAD50 ; TH2LCRR

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Evaluation of RAD50 in familial breast cancer predisposition.

16385572

2006

dbSNP:

rs988423880

PMS2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

dbSNP:

rs985033810

TP53

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.

16494995

2007

dbSNP:

rs985033810

TP53

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Number of rare germline CNVs and TP53 mutation types.

23259501

2012

dbSNP:

rs985033810

TP53

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

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

21343334

2011

dbSNP:

rs985033810

TP53

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers.

16861262

2007

dbSNP:

rs985033810

TP53

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs985033810

TP53

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations.

8023157

1994

dbSNP:

rs985033810

TP53

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Investigation and prediction of the severity of p53 mutants using parameters from structural calculations.

19558493

2009

dbSNP:

rs9809219

SDHA

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors.

22677546

2012

dbSNP:

rs9809219

SDHA

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.

27683074

2017

dbSNP:

rs9809219

SDHA

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

16798039

2006

dbSNP:

rs9809219

SDHA

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Survey of human mitochondrial diseases using new genomic/proteomic tools.

11423010

2001

dbSNP:

rs9809219

SDHA

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity.

21858060

2011

dbSNP:

rs9809219

SDHA

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

A role for mitochondrial enzymes in inherited neoplasia and beyond.

12612654

2003

dbSNP:

rs9809219

SDHA

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Structural basis for malfunction in complex II.

22904323

2012

dbSNP:

rs9809219

SDHA

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.

15795514

2005

dbSNP:

rs9809219

SDHA

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency.

20489732

2010

dbSNP:

rs9809219

SDHA

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.

7550341

1995

dbSNP:

rs932830392

MUTYH

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

dbSNP:

rs898854295

SDHC

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Crystal structure of mitochondrial respiratory membrane protein complex II.

15989954

2005