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

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

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

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

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

22241717

2012

dbSNP:

rs1060503770

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:

rs786202403

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:

rs786203067

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?

22170724

2012

dbSNP:

rs786205436

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

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

21348866

2012

dbSNP:

rs80338842

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

SDHD;TIMM8B

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

21945342

2012

dbSNP:

rs80338845

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

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

21348866

2012

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:

rs786202403

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:

rs80338842

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

SDHD;TIMM8B

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

21792967

2011

dbSNP:

rs80338844

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

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

21937622

2011

dbSNP:

rs1131691063

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management.

20208144

2010

dbSNP:

rs397514034

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

SDHD;TIMM8B

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

19802898

2010

dbSNP:

rs587776649

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

SDHD;TIMM8B

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

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

20418362

2010

dbSNP:

rs80338843

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

SDHD;TIMM8B

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

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

20418362

2010

dbSNP:

rs80338845

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

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:

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:

rs1060503770

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas.

19223516

2009

dbSNP:

rs1555187574

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

19351833

2009

dbSNP:

rs397514034

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

SDHD;TIMM8B

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation.

19072999

2009

dbSNP:

rs587776649

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

SDHD;TIMM8B

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior.

19075037

2009

dbSNP:

rs755047928

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.

19576851

2009