DisGeNET - a database of gene-disease associations

PARAGANGLIOMAS 4, C1861848

Variant: rs267607032 ×

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:

rs267607032

SDHB

0.700

CausalMutation

CLINVAR

Paraganglioma Presenting as Postpartum Fever of Unknown Origin.

26236513

2015

dbSNP:

rs267607032

SDHB

0.700

GeneticVariation

CLINVAR

Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.

23512077

2013

dbSNP:

rs267607032

SDHB

0.700

GeneticVariation

CLINVAR

Prevalence of germline mutations in patients with pheochromocytoma or abdominal paraganglioma and sporadic presentation: a population-based study in Western Sweden.

22270996

2012

dbSNP:

rs267607032

SDHB

0.700

CausalMutation

CLINVAR

Compound heterozygous mutation with a novel splice donor region DNA sequence variant in the succinate dehydrogenase subunit B gene in malignant paraganglioma.

19927285

2010

dbSNP:

rs267607032

SDHB

0.700

CausalMutation

CLINVAR

Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery.

20503330

2010

dbSNP:

rs267607032

SDHB

0.700

CausalMutation

CLINVAR

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

19802898

2010

dbSNP:

rs267607032

SDHB

0.700

CausalMutation

CLINVAR

Early presentation of familial paraganglioma with SDHB mutation in a 13 year old child and its mother.

20583550

2010

dbSNP:

rs267607032

SDHB

0.700

GeneticVariation

CLINVAR

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

19802898

2010

dbSNP:

rs267607032

SDHB

0.700

GeneticVariation

CLINVAR

Compound heterozygous mutation with a novel splice donor region DNA sequence variant in the succinate dehydrogenase subunit B gene in malignant paraganglioma.

19927285

2010

dbSNP:

rs267607032

SDHB

0.700

GeneticVariation

CLINVAR

Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery.

20503330

2010

dbSNP:

rs267607032

SDHB

0.700

CausalMutation

CLINVAR

Malignant paraganglioma associated with succinate dehydrogenase subunit B in an 8-year-old child: the age of first screening?

19189136

2009

dbSNP:

rs267607032

SDHB

0.700

GeneticVariation

CLINVAR

An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.

19576851

2009

dbSNP:

rs267607032

SDHB

0.700

GeneticVariation

CLINVAR

Malignant paraganglioma associated with succinate dehydrogenase subunit B in an 8-year-old child: the age of first screening?

19189136

2009

dbSNP:

rs267607032

SDHB

0.700

GeneticVariation

CLINVAR

Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene.

18840642

2008

dbSNP:

rs267607032

SDHB

0.700

GeneticVariation

CLINVAR

High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.

16912137

2006

dbSNP:

rs267607032

SDHB

0.700

CausalMutation

CLINVAR

High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.

16912137

2006