rs34677591, SDHD;TIMM8B

N. diseases: 12
Disease: Pheochromocytoma, Extra-Adrenal ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pheochromocytoma, Extra-Adrenal
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
0.020 GeneticVariation BEFREE A first case of variant c.149 A>G (H50R) was found in a patient with an extra-adrenal pheochromocytoma, the other variant c.34 G>A (G12S) in a patient with a paratracheal paraganglioma, C-cell hyperplasia of the thyroid and hyperplasia of ACTH-producing cells of the pituitary gland. 12386824 2002
Pheochromocytoma, Extra-Adrenal
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
0.020 GeneticVariation BEFREE Another patient with malignant, extra-adrenal pheochromocytoma was found to have germ-line c.34G> A (G12S). 11156372 2000