Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338842
rs80338842
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		C 0.700 CausalMutation CLINVAR Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China. 26096992 2015
dbSNP: rs80338844
rs80338844
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice. 25695889 2015
dbSNP: rs104894304
rs104894304
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		G 0.700 CausalMutation CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444 2013
dbSNP: rs80338844
rs80338844
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR Genetic testing in head and neck paraganglioma: who, what, and why? 24436918 2013
dbSNP: rs80338844
rs80338844
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444 2013
dbSNP: rs104894304
rs104894304
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		G 0.700 CausalMutation CLINVAR The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression. 22456618 2012
dbSNP: rs80338842
rs80338842
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		C 0.700 CausalMutation CLINVAR Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717 2012
dbSNP: rs80338842
rs80338842
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		C 0.700 CausalMutation 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
dbSNP: rs80338843
rs80338843
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 21348866 2012
dbSNP: rs80338842
rs80338842
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		C 0.700 CausalMutation CLINVAR Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients? 21792967 2011
dbSNP: rs80338844
rs80338844
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. 21937622 2011
dbSNP: rs80338842
rs80338842
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		C 0.700 CausalMutation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582 2009
dbSNP: rs80338842
rs80338842
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		C 0.700 CausalMutation CLINVAR Genetics of pheochromocytoma and paraganglioma in Spanish patients. 19258401 2009
dbSNP: rs80338843
rs80338843
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. 19825962 2009
dbSNP: rs80338843
rs80338843
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582 2009
dbSNP: rs104894304
rs104894304
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		G 0.700 CausalMutation CLINVAR Systematic screening and treatment evaluation of hereditary neck paragangliomas. 17563904 2007
dbSNP: rs80338842
rs80338842
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		C 0.700 CausalMutation CLINVAR A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency. 17406045 2007
dbSNP: rs80338842
rs80338842
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		C 0.700 CausalMutation CLINVAR Novel SDHD germ-line mutations in pheochromocytoma patients. 17576205 2007
dbSNP: rs80338844
rs80338844
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR SDH mutations in patients affected by paraganglioma syndromes: a personal experience. 17102085 2006
dbSNP: rs80338842
rs80338842
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		C 0.700 CausalMutation CLINVAR Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. 15066320 2004
dbSNP: rs80338843
rs80338843
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. 15328326 2004
dbSNP: rs80338842
rs80338842
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		C 0.700 CausalMutation CLINVAR Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect? 12782822 2003
dbSNP: rs80338844
rs80338844
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. 12811540 2003
dbSNP: rs80338843
rs80338843
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. 11897817 2002
dbSNP: rs80338844
rs80338844
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. 11897817 2002