Disease: Hyperparathyroidism, Primary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61734277
rs61734277
Entrez Id: 9247
Gene Symbol: GCM2
GCM2
CUI: C0221002
Disease:
Hyperparathyroidism, Primary 		0.010 GeneticVariation BEFREE The aims of the study were to 1) assess the frequency of Y282D in Italian primary hyperparathyroidism (PHPT) and control (C) populations, 2) test for association of 282D with PHPT and its phenotypic features, and 3) compare the transactivation potency of GCM2 282D relative to wild-type Y282. 25279501 2014