rs75076352, RET

N. diseases: 24
Disease: Adrenal Gland Pheochromocytoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
0.030 GeneticVariation BEFREE There was a greater frequency of pheochromocytoma in those subjects who had the Cys634Arg mutation (p < 0.03). 18795243 2008
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
0.030 GeneticVariation BEFREE No statistical significance was found between the incidence of PCC and different genotypes of codon 634 in MEN2A patients, whereas the incidence of HPT was closely associated with C634R and C634Y. 17573899 2007
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
0.030 GeneticVariation BEFREE Furthermore, it would appear that C630R mirrors C634R in penetrance (100% in this family) and in early age of onset of MTC, although paradoxically, no pheochromocytomas and hyperparathyroidism have developed. 16053382 2005