DisGeNET - a database of gene-disease associations

SDHD, succinate dehydrogenase complex subunit D, 6392

N. diseases: 348; N. variants: 69

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:

rs786205436

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C1855008
Disease:

Mitochondrial Complex II Deficiency

0.810

GeneticVariation

BEFREE

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

26008905

2015

dbSNP:

rs786205436

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C1855008
Disease:

Mitochondrial Complex II Deficiency

0.810

CausalMutation

CLINVAR

dbSNP:

rs786205436

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C1855008
Disease:

Mitochondrial Complex II Deficiency

0.810

GeneticVariation

UNIPROT

dbSNP:

rs80338844

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

CausalMutation

CLINVAR

Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

25494863

2015

dbSNP:

rs80338845

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

CausalMutation

CLINVAR

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

26008905

2015

dbSNP:

rs80338844

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

24893135

2014

dbSNP:

rs80338844

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

24493721

2014

dbSNP:

rs80338845

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

24493721

2014

dbSNP:

rs80338845

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

24893135

2014

dbSNP:

rs80338844

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

Canadian guideline on genetic screening for hereditary renal cell cancers.

24319509

2013

dbSNP:

rs80338844

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

CausalMutation

CLINVAR

Genetic testing in head and neck paraganglioma: who, what, and why?

24436918

2013

dbSNP:

rs80338844

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

CausalMutation

CLINVAR

Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations.

23433498

2013

dbSNP:

rs80338845

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

GeneticVariation

UNIPROT

Canadian guideline on genetic screening for hereditary renal cell cancers.

24319509

2013

dbSNP:

rs80338844

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

CausalMutation

CLINVAR

High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

21348866

2012

dbSNP:

rs80338845

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

CausalMutation

CLINVAR

High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

21348866

2012

dbSNP:

rs80338844

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

CausalMutation

CLINVAR

Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.

21937622

2011

dbSNP:

rs80338845

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

CausalMutation

CLINVAR

The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.

19584903

2010

dbSNP:

rs80338844

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

CausalMutation

CLINVAR

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

19454582

2009

dbSNP:

rs80338844

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

CausalMutation

CLINVAR

SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.

15479192

2004

dbSNP:

rs80338844

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

CausalMutation

CLINVAR

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

11897817

2002

dbSNP:

rs80338844

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

CausalMutation

CLINVAR

Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

11391796

2001

dbSNP:

rs80338844

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0031511
Disease:

Pheochromocytoma

0.800

CausalMutation

CLINVAR

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

10657297

2000

dbSNP:

rs202198133

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C1855008
Disease:

Mitochondrial Complex II Deficiency

0.800

GeneticVariation

UNIPROT

dbSNP:

rs202198133

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C1855008
Disease:

Mitochondrial Complex II Deficiency

0.800

CausalMutation

CLINVAR

dbSNP:

rs80338845

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0030421
Disease:

Paraganglioma

0.730

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017