GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Idiopathic parathyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271862
Disease: Idiopathic parathyroidism
Idiopathic parathyroidism 		0.010 GeneticVariation disease BEFREE The absence of PTH resistance in the mother and maternal grandfather who carry the same mutation is consistent with current models of paternal imprinting of the GNAS1 gene. 11029463 2001