Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal
0.450 GeneticVariation disease BEFREE While SDHD has been more frequently associated with the pathogenesis of head and neck paragangliomas, SDHB mutations were mainly associated with malignant and/or extra-adrenal pheochromocytoma/paraganglioma. 18551016 2008
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal
0.450 GeneticVariation disease BEFREE Recent studies have demonstrated that SDH gene mutations in germ line occur in at least 11% of non-familial head and neck paragangliomas, 8% of non-familial pheochromocytomas, 28% of malignant pheochromocytomas and 33% of extra-adrenal pheochromocytomas. 18978332 2008
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal
0.450 GeneticVariation disease BEFREE SDHB mutations are often detected in malignant and extra-adrenal pheochromocytomas. 17308434 2007
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal
0.450 AlteredExpression disease BEFREE In multiple endocrine neoplasia (MEN) 2a, the expression of the SDH genes and VHL mRNA was significantly higher than that observed in adrenal or extra-adrenal pheochromocytoma. 17102093 2006
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal
0.450 GeneticVariation disease BEFREE Paraganglioma syndrome includes inherited head and neck paragangliomas (HNPs) and adrenal or extra-adrenal pheochromocytomas and are classified according to the susceptibility genes SDHB, SDHC, and SDHD. 16249420 2005
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal
0.450 Biomarker disease CTD_human
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal
0.450 Biomarker disease HPO