DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Neoplastic Syndromes, Hereditary ×

Gene: SDHB ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Identification of succinate dehydrogenase-deficient bladder paragangliomas.

23797725

2013

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

14500403

2003

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas.

16103922

2005

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.

26642834

2016

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation.

12362046

2002

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.

23072324

2013

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Structural and functional consequences of succinate dehydrogenase subunit B mutations.

25972245

2015

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

11897817

2002

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Structural basis for malfunction in complex II.

22904323

2012

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Germ-line mutations in nonsyndromic pheochromocytoma.

12000816

2002

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

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

20503330

2010

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

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

29386252

2018

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Are these compound heterozygous mutations of SDHB really mutations?

20213850

2010

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5.

26273102

2015

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome.

26960314

2016

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.

23083876

2012

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Somatic SDHB mutation in an extraadrenal pheochromocytoma.

17634472

2007

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.

28503760

2018

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

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

19184535

2009

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Clinicopathological study of SDHB mutation-related pheochromocytoma and sympathetic paraganglioma.

24659481

2014

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

The Warburg effect is genetically determined in inherited pheochromocytomas.

19763184

2009

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

16405730

2006

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Bilateral adrenal medullary hyperplasia associated with an SDHB mutation.

21172883

2011

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Structural and functional consequences of succinate dehydrogenase subunit B mutations.

25972245

2015

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Usefulness of Somatostatin Receptor Scintigraphy (Tc-[HYNIC, Tyr3]-Octreotide) and 123I-Metaiodobenzylguanidine Scintigraphy in Patients with SDHx Gene-Related Pheochromocytomas and Paragangliomas Detected by Computed Tomography.

25791839

2015