×
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
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
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
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.
10657297 2000
×
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.
11156372 2000
×
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Germline SDHD mutation in familial phaeochromocytoma.
11323050 2001
×
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
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
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Germ-line mutations in nonsyndromic pheochromocytoma.
12000816 2002
×
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.
12111639 2002
×
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
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
×
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.
15328326 2004
×
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.
15479192 2004
×
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Crystal structure of mitochondrial respiratory membrane protein complex II.
15989954 2005
×
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X.
16061558 2005
×
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Carotid body paraganglioma and SDHD mutation in a Greek family.
16080474 2005
×
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Genetic testing in pheochromocytoma or functional paraganglioma.
16314641 2005
×
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
16317055 2006
×
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
16317055 2006
×
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas.
17308434 2007