Gene: SDHD ×
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 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 GermlineCausalMutation disease ORPHANET We investigated 11 patients with the dyad of 'paraganglioma and gastric stromal sarcoma'; in eight (from seven unrelated families), the GISTs were caused by germline mutations of the genes encoding subunits B, C, or D (the SDHB, SDHC and SDHD genes, respectively). 17667967 2008
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 Biomarker disease CTD_human
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 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444 2013
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease 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 		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 Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior. 19075037 2009
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. 19351833 2009
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome. 20098451 2010
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 W43X SDHD mutation in sporadic head and neck paraganglioma. 18561749 2008
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease 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 		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 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. 27279923 2016
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1. 18826997 2008
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR A role for mitochondrial enzymes in inherited neoplasia and beyond. 12612654 2003
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment. 12509798 2003
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 CausalMutation disease CLINVAR Germline SDHD mutation in familial phaeochromocytoma. 11323050 2001
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 GeneticVariation disease CLINVAR Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 16317055 2006
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 GeneticVariation disease CLINVAR Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 10657297 2000
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 10657297 2000
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family. 19584903 2010
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.760 CausalMutation disease CLINVAR We investigated 11 patients with the dyad of 'paraganglioma and gastric stromal sarcoma'; in eight (from seven unrelated families), the GISTs were caused by germline mutations of the genes encoding subunits B, C, or D (the SDHB, SDHC and SDHD genes, respectively). 17667967 2008