DisGeNET - a database of gene-disease associations

Source: ALL

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

Effect of cysteine to serine mutations on the properties of the [4Fe-4S] center in Escherichia coli fumarate reductase.

7547971

1995

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.

11404820

2001

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.

11404820

2001

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

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

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

CausalMutation

CLINVAR

Crystallographic studies of the Escherichia coli quinol-fumarate reductase with inhibitors bound to the quinol-binding site.

11850430

2002

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.

12364472

2002

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.

12364472

2002

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

Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.

12618761

2003

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.

12618761

2003

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.

14685938

2004

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features.

15235042

2004

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

15328326

2004

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Crystal structure of mitochondrial respiratory membrane protein complex II.

15989954

2005

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

GeneticVariation

CLINVAR

Crystal structure of mitochondrial respiratory membrane protein complex II.

15989954

2005

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.

15987702

2005

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Genetic testing in pheochromocytoma or functional paraganglioma.

16314641

2005

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Genetic testing in pheochromocytoma or functional paraganglioma.

16314641

2005

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

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

17143317

2006

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

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

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

16317055

2006

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