×
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
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
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
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
6390
Gene Symbol:
SDHB
SDHB
0.760
GeneticVariation
disease
BEFREE
Eleven out of 14 (79%) patients with PGLs of the organ of Zuckerkandl were found to have mutations in the SDHB (9) or SDHD (2) genes; one patient was found to have the Carney-Stratakis syndrome (CSS), and his PGL was discovered during surgery for gastrointestinal stromal tumor.
20418362
2010
×
Entrez Id:
6390
Gene Symbol:
SDHB
SDHB
0.760
Biomarker
disease
BEFREE
All GISTs from patients with Carney-Stratakis syndrome and Carney triad were negative for SDHB immunohistochemically.
20890271
2011
×
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:
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
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