Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Sporadic or familial head neck paragangliomas enrolled in a single center: clinical presentation and genotype/phenotype correlations. 22290790

2013

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 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

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. 15328326

2004

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas. 16080530

2005

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 10657297

2000

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy. 22025150

2011

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. 18551016

2008

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 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

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. 11897817

2002

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency. 17406045

2007

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717

2012

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations. 25300370

2014

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. 27279923

2016

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Mediastinal paragangliomas related to SDHx gene mutations. 27785149

2016

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Genetic testing in pheochromocytoma or functional paraganglioma. 16314641

2005

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T). 25720320

2015

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. 19802898

2010

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582

2009

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 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

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. 17667967

2008

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Familial gastrointestinal stromal tumors and germ-line mutations. 17804857

2007

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands. 9683583

1998

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Germline SDHD mutation in familial phaeochromocytoma. 11323050

2001

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas. 24102379

2014

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect? 12782822

2003