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: 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: 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: 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: 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: 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: 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: 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 mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 11391796 2001