Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 GeneticVariation disease BEFREE Germline mutations in SDH genes ( SDHA, SDHB, SDHC, or SDHD) suggest Carney-Stratakis syndrome, a paraganglioma syndrome with predisposition for GIST. 30301441 2019
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 GeneticVariation disease BEFREE SDH deficiency may result from germline SDHA, SDHB, SDHC, or SDHD mutations and is found in autosomal-dominant familial paraganglioma/pheochromocytoma and Carney-Stratakis syndrome, describing the combination of paraganglioma and gastrointestinal stromal tumor (GIST). 29339836 2018
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. 27279923 2016
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.760 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.760 Biomarker disease GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189 2016
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 26008905 2015
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. 25494863 2015
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. 26269449 2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.760 GeneticVariation disease BEFREE It is now known that neurofibromatosis-1-associated GISTs are SDHB-positive, whereas Carney-Stratakis syndrome-associated GISTs are SDHB-deficient with underlying germline mutations in SDH subunits A-D. 24840526 2014
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome. 25275255 2014
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444 2013
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.760 Biomarker disease BEFREE WT KIT/PDGFRA/BRAF GISTs without SDHB or SDHA/SDHB expression may correspond to Carney-Stratakis dyad or Carney triad. 22948025 2013
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1α/miR-210 signaling pathway. 23902947 2013
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR Genetic testing in head and neck paraganglioma: who, what, and why? 24436918 2013
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 GeneticVariation disease BEFREE They may be syndromal with some being associated with the Carney Triad or germline SDHA, SDHB, SDHC, or SDHD mutations (Carney-Stratakis syndrome). 23060355 2013
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 Biomarker disease BEFREE Some of these patients have germline mutations of SDH subunit genes SDHB, SDHC, or SDHD, known as Carney-Stratakis syndrome when combined with paraganglioma. 23282968 2013
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations. 23433498 2013
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. 23512077 2013
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. 22517554 2012
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 21348866 2012
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease 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
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression. 22456618 2012
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.760 Biomarker disease GENOMICS_ENGLAND Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. 22972948 2012
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 GeneticVariation disease CLINVAR Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717 2012
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717 2012