DisGeNET - a database of gene-disease associations

SDHD, succinate dehydrogenase complex subunit D, 6392

N. diseases: 348; N. variants: 69

Disease: Neoplastic Syndromes, Hereditary ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894302

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy.

22025150

2011

dbSNP:

rs104894302

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

10657297

2000

dbSNP:

rs104894302

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

22241717

2012

dbSNP:

rs104894303

Entrez Id:	6392;26521
Gene Symbol:	SDHD;TIMM8B

SDHD;TIMM8B

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

10657297

2000

dbSNP:

rs104894304

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

23175444

2013

dbSNP:

rs104894304

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Carotid body paraganglioma and SDHD mutation in a Greek family.

16080474

2005

dbSNP:

rs104894304

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

16317055

2006

dbSNP:

rs104894304

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Systematic screening and treatment evaluation of hereditary neck paragangliomas.

17563904

2007

dbSNP:

rs104894304

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.

22456618

2012

dbSNP:

rs104894304

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome.

25275255

2014

dbSNP:

rs104894304

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

27279923

2016

dbSNP:

rs104894304

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

11343322

2001

dbSNP:

rs104894304

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

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

15328326

2004

dbSNP:

rs104894304

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Role of the genetic study in the management of carotid body tumor in paraganglioma syndrome.

18692411

2008

dbSNP:

rs104894304

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

22241717

2012

dbSNP:

rs104894304

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.

16080530

2005

dbSNP:

rs104894306

Entrez Id:	6392;26521
Gene Symbol:	SDHD;TIMM8B

SDHD;TIMM8B

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

22241717

2012

dbSNP:

rs104894306

Entrez Id:	6392;26521
Gene Symbol:	SDHD;TIMM8B

SDHD;TIMM8B

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Genetics of pheochromocytoma and paraganglioma in Spanish patients.

19258401

2009

dbSNP:

rs104894306

Entrez Id:	6392;26521
Gene Symbol:	SDHD;TIMM8B

SDHD;TIMM8B

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

16317055

2006

dbSNP:

rs104894306

Entrez Id:	6392;26521
Gene Symbol:	SDHD;TIMM8B

SDHD;TIMM8B

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

11391798

2001

dbSNP:

rs104894306

Entrez Id:	6392;26521
Gene Symbol:	SDHD;TIMM8B

SDHD;TIMM8B

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

11605159

2001

dbSNP:

rs104894306

Entrez Id:	6392;26521
Gene Symbol:	SDHD;TIMM8B

SDHD;TIMM8B

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Genetic testing in pheochromocytoma or functional paraganglioma.

16314641

2005

dbSNP:

rs104894307

Entrez Id:	6392;26521
Gene Symbol:	SDHD;TIMM8B

SDHD;TIMM8B

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

dbSNP:

rs104894308

Entrez Id:	6392;26521
Gene Symbol:	SDHD;TIMM8B

SDHD;TIMM8B

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

12111639

2002

dbSNP:

rs104894309

Entrez Id:	6392;26521
Gene Symbol:	SDHD;TIMM8B

SDHD;TIMM8B

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

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