×
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
×
Entrez Id:
6392
Gene Symbol:
SDHD
SDHD
0.760
CausalMutation
disease
CLINVAR
Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.
18211978
2008
×
Entrez Id:
6392
Gene Symbol:
SDHD
SDHD
0.760
CausalMutation
disease
CLINVAR
High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.
18551016
2008
×
Entrez Id:
6392
Gene Symbol:
SDHD
SDHD
0.760
GeneticVariation
disease
CLINVAR
Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.
12811540
2003
×
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
Germ-line mutations in nonsyndromic pheochromocytoma.
12000816
2002
×
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:
6392
Gene Symbol:
SDHD
SDHD
0.760
CausalMutation
disease
CLINVAR
Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.
11391796
2001
×
Entrez Id:
6392
Gene Symbol:
SDHD
SDHD
0.760
CausalMutation
disease
CLINVAR
Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.
19825962
2009
×
Entrez Id:
6392
Gene Symbol:
SDHD
SDHD
0.760
CausalMutation
disease
CLINVAR
SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.
15479192
2004
×
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
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.
15328326
2004
×
Entrez Id:
6392
Gene Symbol:
SDHD
SDHD
0.760
CausalMutation
disease
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
0.760
CausalMutation
disease
CLINVAR
Novel SDHD germ-line mutations in pheochromocytoma patients.
17576205
2007
×
Entrez Id:
6392
Gene Symbol:
SDHD
SDHD
0.760
GeneticVariation
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
A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency.
17406045
2007
×
Entrez Id:
6392
Gene Symbol:
SDHD
SDHD
0.760
CausalMutation
disease
CLINVAR
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.
19454582
2009
×
Entrez Id:
6392
Gene Symbol:
SDHD
SDHD
0.760
CausalMutation
disease
CLINVAR
Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.
11391798
2001
×
Entrez Id:
6392
Gene Symbol:
SDHD
SDHD
0.760
GeneticVariation
disease
CLINVAR
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.
19454582
2009
×
Entrez Id:
6392
Gene Symbol:
SDHD
SDHD
0.760
CausalMutation
disease
CLINVAR
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.
11343322
2001
×
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
Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.
12111639
2002
×
Entrez Id:
6392
Gene Symbol:
SDHD
SDHD
0.760
CausalMutation
disease
CLINVAR
Systematic screening and treatment evaluation of hereditary neck paragangliomas.
17563904
2007