Disease: Paragangliomas with Sensorineural Hearing Loss ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
0.700 CausalMutation CLINVAR Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717 2012
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
0.700 CausalMutation CLINVAR High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 21348866 2012
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
0.700 CausalMutation CLINVAR Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. 22517554 2012
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
0.700 CausalMutation CLINVAR Genetics of pheochromocytoma and paraganglioma in Spanish patients. 19258401 2009
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
0.700 CausalMutation CLINVAR Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 16317055 2006
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
0.700 CausalMutation CLINVAR Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. 11391798 2001
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
0.700 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