rs768299768, POMC

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parathyroid Adenoma
CUI: C0262587
Disease: Parathyroid Adenoma
0.010 GeneticVariation BEFREE To assess the risk associated with polymorphism rs2066827 (p27-V109G), we genotyped a large cohort of Brazilian patients with sporadic endocrine tumors (pituitary adenomas, n=252; pheochromocytomas, n=125; medullary thyroid carcinoma, n=51; and parathyroid adenomas, n=19) and 885 population-matched healthy controls and determined the odds ratios and 95% CIs. 24532476 2014
Aarskog syndrome
CUI: C0175701
Disease: Aarskog syndrome
0.010 GeneticVariation BEFREE The molecular analysis of FGD patients revealed a novel p.Gly116Val mutation in the MC2R gene in one patient and p.Met1Ile mutation in the MRAP gene in another patient. 18426811 2008