Disease: Paragangliomas with Sensorineural Hearing Loss ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		T 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: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		G 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: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		T 0.700 CausalMutation CLINVAR A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency. 17406045 2007
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		T 0.700 CausalMutation CLINVAR Novel SDHD germ-line mutations in pheochromocytoma patients. 17576205 2007
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		G 0.700 CausalMutation CLINVAR Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. 15066320 2004
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		T 0.700 CausalMutation CLINVAR Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. 15066320 2004
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		G 0.700 CausalMutation CLINVAR A role for mitochondrial enzymes in inherited neoplasia and beyond. 12612654 2003
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		T 0.700 CausalMutation CLINVAR A role for mitochondrial enzymes in inherited neoplasia and beyond. 12612654 2003
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		T 0.700 CausalMutation CLINVAR Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect? 12782822 2003
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		T 0.700 CausalMutation CLINVAR Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 11391796 2001