DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs397516836 ×

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:

rs397516836

SDHB

0.700

CausalMutation

CLINVAR

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

29386252

2018

dbSNP:

rs397516836

SDHB

0.700

CausalMutation

CLINVAR

Rapid-sequence MRI for long-term surveillance for paraganglioma and phaeochromocytoma in patients with succinate dehydrogenase mutations.

27634942

2016

dbSNP:

rs397516836

SDHB

0.700

CausalMutation

CLINVAR

Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.

26173966

2016

dbSNP:

rs397516836

SDHB

0.700

CausalMutation

CLINVAR

Lack of utility of SDHB mutation testing in adrenergic metastatic phaeochromocytoma.

25371406

2015

dbSNP:

rs397516836

SDHB

0.700

CausalMutation

CLINVAR

Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function.

22835832

2012

dbSNP:

rs397516836

SDHB

0.700

CausalMutation

CLINVAR

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.

21173220

2011

dbSNP:

rs397516836

SDHB

0.700

CausalMutation

CLINVAR

Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl.

20418362

2010

dbSNP:

rs397516836

SDHB

0.700

CausalMutation

CLINVAR

Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients.

20119652

2010

dbSNP:

rs397516836

SDHB

0.700

CausalMutation

CLINVAR

SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis.

19184535

2009

dbSNP:

rs397516836

SDHB

0.700

CausalMutation

CLINVAR

Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas.

18382370

2008

dbSNP:

rs397516836

SDHB

0.700

CausalMutation

CLINVAR

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

18840642

2008

dbSNP:

rs397516836

SDHB

0.700

CausalMutation

CLINVAR

Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas.

17200167

2007

dbSNP:

rs397516836

SDHB

0.700

CausalMutation

CLINVAR

A case of familial paraganglioma syndrome type 4 caused by a mutation in the SDHB gene.

17143317

2006

dbSNP:

rs397516836

SDHB

0.700

CausalMutation

CLINVAR